EIEE6
MCID: EPL184
MIFTS: 69

Epileptic Encephalopathy, Early Infantile, 6 (EIEE6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 6

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 6:

Name: Epileptic Encephalopathy, Early Infantile, 6 58 76 39
Dravet Syndrome 58 12 77 54 55 60 76 38 13 56 15
Severe Myoclonic Epilepsy of Infancy 58 54 55 60
Smei 58 54 60 76
Severe Myoclonic Epilepsy in Infancy 76 30 6
Eiee6 58 76
Sme 54 3
Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures 74
Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 76
Encephalopathy, Epileptic, Early Infantile, Type 6 41
Severe Myoclonic Epilepsy of Infancy; Smei 58
Early Infantile Epileptic Encephalopathy 6 12
Myoclonic Epilepsy, Severe, of Infancy 54
Smei-Borderland More Than One Feature 76
Severe Myoclonus Epilepsy of Infancy 60
Infantile Severe Myoclonic Epilepsy 74
Smei-Borderland-Myoclonic Seizures 76
Dravet Syndrome, Modifier of 58
Smei-Borderland-Spike Wave 76
Borderline Smei 76
Smei-Borderland 76
Smeb-Sw 76
Smeb-M 76
Smeb-O 76
Icegtc 76
Smeb 76
Ds 60

Characteristics:

Orphanet epidemiological data:

60
dravet syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in first year of life
most mutations occur de novo
marked phenotypic variability
psychomotor delay may already be apparent at onset of seizures
may be induced by fever or hot bath
often refractory to medical therapy
may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, )


HPO:

33
epileptic encephalopathy, early infantile, 6:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 6

NINDS : 55 Dravet syndrome, previously called severe myoclonic epilepsy of infancy (SMEI), is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe. Children with Dravet syndrome initially show focal (confined to one area) or generalized (throughout the brain) convulsive seizures that start before 15 months of age (often before age one). These initial seizures are often prolonged and involve half of the body, with subsequent seizures that may switch to the other side of the body. These initial seizures are frequently provoked by seizures or exposure to increased temperatures or temperature changes, such as getting out of a bath. Other seizure types emerge after 12 months of age and can be quite varied. Status epilepticus – a state of continuous seizure requiring emergency medical care – may occur frequently in these children, particularly in the first five years of life. Children with Dravet syndrome typically have normal development in the first fews years of life. As seizures increase, the pace of acquiring skills slows and children start to lag in development behind their peers. Other symptoms can begin throughout childhood with changes in eating, appetitie, balance, and a crouched gait (walking). In at least 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Mutations in the SCN1A gene (a gene that encodes as a sodium channel, a part of the cell membrane involved in nervous system function) are the primary causes of Dravet syndrome. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) but which is much less severe, are caused by defects in the same gene. Dravet syndrome is a lifelong condition.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 6, also known as dravet syndrome, is related to encephalopathy and seizure disorder, and has symptoms including ataxia, absence seizures and myoclonic seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 6 is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Dopaminergic synapse and Activation of cAMP-Dependent PKA. The drugs Ethanol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related phenotypes are ataxia and eeg abnormality

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SCN1A gene on chromosome 2q24.

NIH Rare Diseases : 54 Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as SCN1A-related seizure disorders. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. Around 85% of Dravet syndrome cases are due to a mutation in the SCN1A gene, which is required for the proper function of brain cells. In about 10% of cases the cause is unknown but other genes are likely the cause. The main goal of treatment is to reduce seizures frequency and prevent status epilepticus. Moderate to severe cognitive impairment and intractable epilepsy into adulthood is common. 

OMIM : 58 Dravet syndrome, first described by Dravet (1978), is a clinical term for early-onset epileptic encephalopathy (EIEE) characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Seizures are usually refractory to treatment. Later, patients also manifest other seizure types, including absence, myoclonic, and partial seizures. The EEG is often normal at first, but later characteristically shows generalized spike-wave activity. Psychomotor development stagnates around the second year of life, and affected individuals show subsequent mental decline and other neurologic manifestations (summary by Harkin et al., 2007). Since mutation in the SCN1A gene can also cause the less severe disorder autosomal dominant generalized epilepsy with febrile seizures-plus, Dravet syndrome and migrating partial seizures of infancy (MPSI) are considered to be the most severe phenotypes within the spectrum of SCN1A-related epilepsies (Ohmori et al., 2002; Carranza Rojo et al., 2011). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. For a general phenotypic description and a discussion of genetic heterogeneity of early infantile epileptic encephalopathy, see EIEE1 (308350). (607208)

CDC : 3 If you are one of the millions of people in the United States living with a chronic health condition, a self-management education (SME) program can help you learn ways to reduce stress, feel better, and have more energy to live your life to the fullest. SME programs are clinically proven to reduce symptoms and improve quality of life. Whether you are living with arthritis, cancer, diabetes, heart disease or another chronic condition, there is an SME program that can help you begin to feel better.

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 6: A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. Intractable childhood epilepsy with generalized tonic-clonic seizures: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures.

Wikipedia : 77 Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a type of epilepsy... more...

Related Diseases for Epileptic Encephalopathy, Early Infantile, 6

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71

Diseases related to Epileptic Encephalopathy, Early Infantile, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 31.3 PCDH19 SCN1A SLC25A22 STXBP1
2 seizure disorder 31.2 KCNQ2 SCN1A SCN2A
3 myoclonic epilepsy of infancy 31.1 GABRG2 SCN1A SCN8A
4 epilepsy with generalized tonic-clonic seizures 31.1 SCN1A SCN2A
5 early myoclonic encephalopathy 31.1 GABRG2 SCN1A SCN1B SLC25A22
6 genetic epilepsy with febrile seizures plus 31.0 SCN1A SCN9A
7 febrile seizures 30.7 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN9A
8 lennox-gastaut syndrome 30.4 GABRA1 GABRB3 GABRG2 SCN1A STXBP1
9 epilepsy 30.2 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNT1
10 focal epilepsy 29.9 GABRD GABRG2 KCNT1 SCN1A SCN2A SCN3A
11 generalized epilepsy with febrile seizures plus 29.7 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN2A
12 generalized epilepsy with febrile seizures plus, type 2 11.1
13 scn1a-related seizure disorders 11.1
14 febrile infection-related epilepsy syndrome 10.4 PCDH19 SCN1A
15 status epilepticus 10.4
16 generalized epilepsy with febrile seizures plus, type 1 10.4 SCN1A SCN1B
17 coffin-siris syndrome 4 10.4 SCN2A SCN8A SCN9A
18 deafness, autosomal dominant 16 10.4 SCN2A SCN3A
19 epileptic encephalopathy, early infantile, 9 10.3 PCDH10 PCDH19 SCN1A
20 benign familial neonatal epilepsy 10.3 KCNQ2 SCN2A SCN3A
21 epilepsy, nocturnal frontal lobe, 1 10.3 GABRG2 KCNQ2 SCN1A SCN1B
22 undetermined early-onset epileptic encephalopathy 10.3 SCN3A SCN8A STXBP1
23 autoimmune lymphoproliferative syndrome 10.3
24 lymphoproliferative syndrome 10.3
25 mental retardation, x-linked, syndromic, hedera type 10.3 GABRA1 SCN2A
26 autism 10.3
27 benign familial infantile epilepsy 10.3 KCNQ2 SCN1B SCN2A SCN8A
28 visual epilepsy 10.3 KCNQ2 SCN1A SCN2A STXBP1
29 benign neonatal seizures 10.3 KCNQ2 SCN2A
30 seizures, benign familial infantile, 3 10.2 GABRG2 KCNQ2 SCN1A SCN1B SCN2A
31 malignant migrating partial seizures of infancy 10.2 KCNT1 SCN1A SCN2A SLC25A22
32 childhood electroclinical syndrome 10.2 GABRA1 GABRB3 GABRG2 WARS
33 trigeminal neuralgia 10.2 SCN3A SCN9A
34 adolescence-adult electroclinical syndrome 10.2 GABRA1 GABRB3 GABRD GABRG2 SCN1A
35 benign epilepsy with centrotemporal spikes 10.2 GABRG2 KCNQ2 KCNT1 SCN1B SCN2A
36 autism spectrum disorder 10.1
37 myoclonus 10.1
38 epilepsy, idiopathic generalized 10 10.1 GABRA1 GABRB3 GABRD GABRG2 SCN1A SCN2A
39 childhood absence epilepsy 10.1 GABRA1 GABRB3 GABRG2 PCDH19 SCN1B WARS
40 west syndrome 10.1 KCNQ2 KCNT1 SCN1A SCN2A SCN8A STXBP1
41 hyperinsulinism 10.1
42 right bundle branch block 10.1 SCN1B SCN2B
43 hemiplegia 10.1
44 movement disease 10.1
45 infancy electroclinical syndrome 10.0 GABRG2 KCNQ2 PCDH10 PCDH19 SCN1A SCN1B
46 neonatal period electroclinical syndrome 10.0 KCNQ2 KCNT1 SCN1A SCN2A SCN8A SLC25A22
47 cystic fibrosis 9.9
48 neuropathy 9.9
49 epilepsy with myoclonic-atonic seizures 9.9
50 epilepsy, idiopathic generalized 9.9 GABRA1 GABRD GABRG2 KCNQ2 PCDH10 PCDH19

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 6:



Diseases related to Epileptic Encephalopathy, Early Infantile, 6

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 6

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 6:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
3 generalized myoclonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002123
4 neurodevelopmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0012758
5 cutaneous photosensitivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000992
6 focal clonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002266
7 psychomotor retardation 33 hallmark (90%) HP:0025356
8 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
9 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
10 febrile seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002373
11 obtundation status 60 33 frequent (33%) Frequent (79-30%) HP:0011151
12 focal impaired awareness seizure 33 occasional (7.5%) HP:0002384
13 generalized tonic-clonic seizures with focal onset 33 occasional (7.5%) HP:0007334
14 seizures 60 Very frequent (99-80%)
15 behavioral abnormality 60 Frequent (79-30%)
16 global developmental delay 33 HP:0001263
17 motor delay 33 HP:0001270
18 generalized seizures 60 Very frequent (99-80%)
19 absence seizures 60 Very frequent (99-80%)
20 status epilepticus 33 HP:0002133
21 mental deterioration 33 HP:0001268
22 focal seizures with impairment of consciousness or awareness 60 Occasional (29-5%)
23 cerebral atrophy 33 HP:0002059
24 postnatal microcephaly 33 HP:0005484
25 epileptic encephalopathy 33 HP:0200134
26 pschomotor retardation 60 Very frequent (99-80%)
27 bilateral convulsive seizures 60 Occasional (29-5%)
28 hemiclonic seizures 33 HP:0006813
29 cerebral visual impairment 33 HP:0100704
30 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
absence seizures
status epilepticus
mental deterioration
myoclonic seizures
more
Head And Neck Eyes:
visual impairment, cortical (in severe cases)

Head And Neck Head:
acquired microcephaly (in severe cases)

Clinical features from OMIM:

607208

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 6:


ataxia, absence seizures, myoclonic seizures

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNT1
2 growth/size/body region MP:0005378 10.03 GABRA1 GABRB3 GABRG2 KCNQ2 PCDH10 SCN1A
3 mortality/aging MP:0010768 10.03 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10
4 nervous system MP:0003631 9.83 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNT1
5 normal MP:0002873 9.23 GABRA1 GABRB3 GABRG2 KCNT1 SCN1A SCN1B

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 6

Drugs for Epileptic Encephalopathy, Early Infantile, 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3,Phase 2 64-17-5 702
2 Strawberry Approved Phase 3,Phase 2
3
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
4
Stiripentol Approved Phase 3 49763-96-4
5
Benzocaine Approved, Investigational Phase 3,Phase 2 94-09-7, 1994-09-7 2337
6
tannic acid Approved Phase 3,Phase 2 1401-55-4
7 Epidiolex Phase 3,Phase 2,Phase 1
8 Anticonvulsants Phase 3,Phase 2,Phase 1
9 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
10 Serotonin Agents Phase 3,Phase 1,Phase 2
11 Serotonin Uptake Inhibitors Phase 3,Phase 1,Phase 2
12 Neurotransmitter Agents Phase 3,Phase 1,Phase 2
13 Neurotransmitter Uptake Inhibitors Phase 3,Phase 1,Phase 2
14 Tranquilizing Agents Phase 3
15 GABA Agents Phase 3
16 Anti-Anxiety Agents Phase 3
17 GABA Agonists Phase 3
18 GABA-A Receptor Agonists Phase 3
19 Psychotropic Drugs Phase 3
20 Central Nervous System Depressants Phase 3
21
Serotonin Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 50-67-9 5202
22
Verapamil Approved Phase 2 52-53-9 2520
23
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
24 Calcium, Dietary Phase 2
25 Vasodilator Agents Phase 2
26 calcium channel blockers Phase 2
27 Anti-Arrhythmia Agents Phase 2
28 Hormones Phase 2
29
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078
30
Turmeric Approved, Experimental, Investigational Not Applicable
31
Racepinephrine Approved 329-65-7 838
32
Epinephrine Approved, Vet_approved 51-43-4 5816
33 Protective Agents Not Applicable
34 Turmeric extract Not Applicable
35 Antioxidants Not Applicable
36 Epinephryl borate

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Unknown status NCT02224703 Phase 3 GWP42003-P;Placebo Control
2 A Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
3 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
4 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
5 A Two-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥2 Years Old and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
6 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
7 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
8 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
9 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
10 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
11 Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure Disorder Completed NCT02318602 Phase 3 Cannabidiol Oral Solution
12 GWPCARE5 - An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet or Lennox-Gastaut Syndromes Enrolling by invitation NCT02224573 Phase 3 GWP42003-P
13 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
14 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2 GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
15 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome Active, not recruiting NCT02758626 Phase 2 ataluren;Placebo
16 A Study to Assess the Safety and Tolerability of ZX008 in Children and Young Adults With DS or LGS Currently Taking CBD Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 02 and 0.8 mg/kg/day
17 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
18 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo
19 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935
20 Cannabinoid Therapy for Pediatric Epilepsy Active, not recruiting NCT02983695 Phase 1 TIL-TC150
21 Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant Epilepsy Active, not recruiting NCT02286986 Phase 1 Cannabidiol
22 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
23 Treatment of Gait Disorders in Children With Dravet Syndrome Recruiting NCT03857451
24 Stiripentol in Dravet Syndrome No longer available NCT01533506 stiripentol
25 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Available NCT01983722 Stiripentol
26 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314 Stiripentol
27 Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies No longer available NCT02239276 Stiripentol
28 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
29 Cardiac Arrhythmias in Dravet Syndrome Completed NCT02415686
30 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
31 ZX008 Expanded Access Protocol Available NCT03780127 Fenfluramine Hydrochloride
32 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
33 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680 Not Applicable
34 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
35 Risk Factors for Sudden Unexplained Death in Epilepsy Recruiting NCT01662453
36 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 6

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 6

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 6:

# Genetic test Affiliating Genes
1 Severe Myoclonic Epilepsy in Infancy 30

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 6

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 6:

42
Brain, Heart, Testes, Skin, Cortex, Cardiac Myocytes

Publications for Epileptic Encephalopathy, Early Infantile, 6

Articles related to Epileptic Encephalopathy, Early Infantile, 6:

(show top 50) (show all 404)
# Title Authors Year
1
Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype. ( 30868114 )
2019
2
Dravet Syndrome: A Developmental and Epileptic Encephalopathy. ( 30838929 )
2019
3
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. ( 30776697 )
2019
4
More daytime sleepiness and worse quality of sleep in patients with Dravet Syndrome compared to other epilepsy patients. ( 30340858 )
2019
5
Drug repurposing for Dravet syndrome in scn1Lab-/- mutant zebrafish. ( 30663052 )
2019
6
Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. ( 30673603 )
2019
7
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations. ( 30805006 )
2019
8
Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures. ( 30828793 )
2019
9
C57BL/6J and C57BL/6N substrains differentially influence phenotype severity in the Scn1a+/- mouse model of Dravet syndrome. ( 30868126 )
2019
10
Longitudinal change of cardiac electrical and autonomic function and potential risk factors in children with dravet syndrome. ( 30870727 )
2019
11
Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany. ( 30871879 )
2019
12
Stiripentol for the treatment of seizures associated with Dravet syndrome. ( 30900478 )
2019
13
Gene expression profiling in a mouse model of Dravet syndrome. ( 30347190 )
2019
14
Behavior problems and health-related quality of life in Dravet syndrome. ( 30578097 )
2019
15
Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. ( 30605686 )
2019
16
Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain. ( 30638257 )
2019
17
Efficacy of the ketogenic diet in Chinese children with Dravet syndrome: A focus on neuropsychological development. ( 30641252 )
2019
18
Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need. ( 30642535 )
2019
19
Motor development in children with Dravet syndrome. ( 30644536 )
2019
20
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. ( 29558884 )
2018
21
Sleep problems in Dravet syndrome: a modifiable comorbidity. ( 29110313 )
2018
22
Acute encephalopathy after febrile status epilepticus: an underdiagnosed, misunderstood complication of Dravet syndrome. ( 29655225 )
2018
23
The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. ( 29573403 )
2018
24
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. ( 30558019 )
2018
25
A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene. ( 30872930 )
2018
26
Population Pharmacokinetics of Stiripentol in Paediatric Patients with Dravet Syndrome Treated with Stiripentol, Valproate and Clobazam Combination Therapy. ( 28819726 )
2018
27
Cannabidiol reduced frequency of convulsive seizures in drug resistant Dravet syndrome. ( 28939549 )
2018
28
Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. ( 28984349 )
2018
29
Development and content validation of a preliminary core set of patient- and caregiver-relevant outcomes for inclusion in a potential composite endpoint for Dravet Syndrome. ( 29108913 )
2018
30
Is epilepsy the cause of comorbidities in Dravet syndrome? ( 29124748 )
2018
31
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations. ( 29141279 )
2018
32
Sleep, oxygen saturation, and seizures in Dravet syndrome. ( 29238957 )
2018
33
Marked efficacy of combined three-drug therapy (Sodium Valproate, Topiramate and Stiripentol) in a patient with Dravet syndrome. ( 29265387 )
2018
34
Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients. ( 29295803 )
2018
35
Cannabidiol for drug-resistant seizures in the Dravet syndrome. ( 29314377 )
2018
36
Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. ( 29329111 )
2018
37
Somatic mosaic deletions involving SCN1A cause Dravet syndrome. ( 29341473 )
2018
38
Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis. ( 29408779 )
2018
39
The direct and indirect costs of Dravet Syndrome. ( 29414539 )
2018
40
Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey. ( 29414545 )
2018
41
Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene. ( 29453127 )
2018
42
Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study. ( 29473155 )
2018
43
Long-term pragmatic use of stiripentol for Dravet syndrome. ( 29512151 )
2018
44
Altered vaccine-induced immunity in children with Dravet syndrome. ( 29512885 )
2018
45
Randomized, dose-ranging safety trial of cannabidiol in Dravet syndrome. ( 29540584 )
2018
46
Seizure Freedom in Patients with Dravet Syndrome with Contraceptives: A Case Report with Two Patients. ( 29571173 )
2018
47
Treatment Strategies for Dravet Syndrome. ( 29594870 )
2018
48
Reefer to the Rescue: The Dope on Cannabidiol as a Multi-Symptom Panacea for Dravet Syndrome. ( 29643753 )
2018
49
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes. ( 29750338 )
2018
50
Economic Evaluation of Stiripentol for Dravet Syndrome: A Cost-Utility Analysis. ( 29761351 )
2018

Variations for Epileptic Encephalopathy, Early Infantile, 6

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 6:

76 (show top 50) (show all 335)
# Symbol AA change Variation ID SNP ID
1 SCN1A p.Thr875Met VAR_010110 rs121918623
2 SCN1A p.Arg1648His VAR_010111 rs121918622
3 SCN1A p.Leu986Phe VAR_014268 rs121918625
4 SCN1A p.Glu78Asp VAR_029660 rs121917933
5 SCN1A p.Arg101Gln VAR_029661 rs121917918
6 SCN1A p.Ser103Gly VAR_029662 rs121918743
7 SCN1A p.Thr112Ile VAR_029663 rs121918745
8 SCN1A p.Gly177Glu VAR_029664 rs121918770
9 SCN1A p.Trp190Arg VAR_029665 rs121918773
10 SCN1A p.Ile227Ser VAR_029666 rs121917937
11 SCN1A p.Ile252Asn VAR_029667 rs121918780
12 SCN1A p.Gly265Trp VAR_029668 rs121918749
13 SCN1A p.Trp280Arg VAR_029669 rs121917938
14 SCN1A p.Thr297Ile VAR_029670 rs121918771
15 SCN1A p.Gly343Asp VAR_029671 rs121918753
16 SCN1A p.Arg393His VAR_029672 rs121917927
17 SCN1A p.Tyr426Asn VAR_029673 rs121917940
18 SCN1A p.Thr808Ser VAR_029676 rs121918758
19 SCN1A p.Phe902Cys VAR_029677 rs121918787
20 SCN1A p.Arg931Cys VAR_029678 rs121918788
21 SCN1A p.Met934Ile VAR_029679 rs121918774
22 SCN1A p.His939Gln VAR_029680 rs121918795
23 SCN1A p.Val944Ala VAR_029681 rs121917969
24 SCN1A p.Arg946Cys VAR_029682 rs121918775
25 SCN1A p.Arg946His VAR_029683 rs121917971
26 SCN1A p.Cys959Arg VAR_029684 rs121918796
27 SCN1A p.Met960Val VAR_029685 rs121918750
28 SCN1A p.Gly979Arg VAR_029686 rs121918754
29 SCN1A p.Val983Ala VAR_029687 rs121918756
30 SCN1A p.Asn985Ile VAR_029688 rs121918747
31 SCN1A p.Asn1011Ile VAR_029689 rs121918759
32 SCN1A p.Ser1231Arg VAR_029692 rs121918746
33 SCN1A p.Gly1233Arg VAR_029693 rs121917911
34 SCN1A p.Phe1263Leu VAR_029694 rs121918752
35 SCN1A p.Leu1265Pro VAR_029695 rs121918794
36 SCN1A p.Leu1355Pro VAR_029697 rs121918776
37 SCN1A p.Ala1326Pro VAR_029698 rs121918803
38 SCN1A p.Val1390Met VAR_029699 rs121917986
39 SCN1A p.Trp1434Arg VAR_029701 rs121918789
40 SCN1A p.Gln1450Arg VAR_029702 rs121918790
41 SCN1A p.Leu1461Ile VAR_029703 rs121918772
42 SCN1A p.Phe1463Ser VAR_029704 rs121917946
43 SCN1A p.Val1611Phe VAR_029706 rs121918630
44 SCN1A p.Pro1632Ser VAR_029707 rs121918755
45 SCN1A p.Arg1648Cys VAR_029708 rs121918791
46 SCN1A p.Phe1661Ser VAR_029710 rs121918797
47 SCN1A p.Pro1668Ala VAR_029711 rs121917948
48 SCN1A p.Gly1674Arg VAR_029712 rs121918792
49 SCN1A p.Tyr1694Cys VAR_029713 rs121918777
50 SCN1A p.Ala1685Asp VAR_029714 rs121918744

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 6:

6 (show top 50) (show all 1323)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh38 Chromosome 2, 166305834: 166305834
2 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
3 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
4 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
5 SCN1A NM_001165963.1(SCN1A): c.3733C> T (p.Arg1245Ter) single nucleotide variant Pathogenic rs727504136 GRCh37 Chromosome 2, 166868765: 166868765
6 SCN1A NM_001165963.1(SCN1A): c.3733C> T (p.Arg1245Ter) single nucleotide variant Pathogenic rs727504136 GRCh38 Chromosome 2, 166012255: 166012255
7 SCN1A NM_001165963.1(SCN1A): c.1739G> A (p.Arg580Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs544692790 GRCh37 Chromosome 2, 166900483: 166900483
8 SCN1A NM_001165963.1(SCN1A): c.1739G> A (p.Arg580Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs544692790 GRCh38 Chromosome 2, 166043973: 166043973
9 SCN1A NM_001165963.1(SCN1A): c.2420dupT (p.Thr808Hisfs) duplication Pathogenic rs786200989 GRCh37 Chromosome 2, 166896102: 166896102
10 SCN1A NM_001165963.1(SCN1A): c.2420dupT (p.Thr808Hisfs) duplication Pathogenic rs786200989 GRCh38 Chromosome 2, 166039592: 166039592
11 SCN1A NM_001165963.1(SCN1A): c.694+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs727504142 GRCh38 Chromosome 2, 166052847: 166052847
12 SCN1A NM_001165963.1(SCN1A): c.694+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs727504142 GRCh37 Chromosome 2, 166909357: 166909357
13 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh37 Chromosome 2, 167060981: 167060984
14 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh38 Chromosome 2, 166204471: 166204474
15 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh38 Chromosome 2, 166280609: 166280609
16 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh37 Chromosome 2, 167137119: 167137119
17 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh38 Chromosome 2, 166280610: 166280610
18 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh37 Chromosome 2, 167137120: 167137120
19 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
20 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
21 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh37 Chromosome 2, 167143050: 167143050
22 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh38 Chromosome 2, 166286540: 166286540
23 SCN1A NM_001165963.1(SCN1A): c.5780G> C (p.Arg1927Thr) single nucleotide variant Pathogenic rs794726737 GRCh38 Chromosome 2, 165991495: 165991495
24 SCN1A NM_001165963.1(SCN1A): c.5780G> C (p.Arg1927Thr) single nucleotide variant Pathogenic rs794726737 GRCh37 Chromosome 2, 166848005: 166848005
25 SCN1A NM_001165963.1(SCN1A): c.5674C> T (p.Arg1892Ter) single nucleotide variant Pathogenic rs794726739 GRCh37 Chromosome 2, 166848111: 166848111
26 SCN1A NM_001165963.1(SCN1A): c.5674C> T (p.Arg1892Ter) single nucleotide variant Pathogenic rs794726739 GRCh38 Chromosome 2, 165991601: 165991601
27 SCN1A NM_001165963.1(SCN1A): c.5662C> T (p.Gln1888Ter) single nucleotide variant Pathogenic rs794726845 GRCh37 Chromosome 2, 166848123: 166848123
28 SCN1A NM_001165963.1(SCN1A): c.5662C> T (p.Gln1888Ter) single nucleotide variant Pathogenic rs794726845 GRCh38 Chromosome 2, 165991613: 165991613
29 SCN1A NM_001165963.1(SCN1A): c.5656C> T (p.Arg1886Ter) single nucleotide variant Pathogenic rs779614747 GRCh38 Chromosome 2, 165991619: 165991619
30 SCN1A NM_001165963.1(SCN1A): c.5656C> T (p.Arg1886Ter) single nucleotide variant Pathogenic rs779614747 GRCh37 Chromosome 2, 166848129: 166848129
31 SCN1A NM_001165963.1(SCN1A): c.5536_5539delAAAC (p.Lys1846Serfs) deletion Pathogenic rs794726726 GRCh37 Chromosome 2, 166848246: 166848249
32 SCN1A NM_001165963.1(SCN1A): c.5536_5539delAAAC (p.Lys1846Serfs) deletion Pathogenic rs794726726 GRCh38 Chromosome 2, 165991736: 165991739
33 SCN1A NM_001165963.1(SCN1A): c.5536A> T (p.Lys1846Ter) single nucleotide variant Pathogenic rs372098964 GRCh37 Chromosome 2, 166848249: 166848249
34 SCN1A NM_001165963.1(SCN1A): c.5536A> T (p.Lys1846Ter) single nucleotide variant Pathogenic rs372098964 GRCh38 Chromosome 2, 165991739: 165991739
35 SCN1A NM_001165963.1(SCN1A): c.5515C> G (p.Leu1839Val) single nucleotide variant Pathogenic rs794726801 GRCh38 Chromosome 2, 165991760: 165991760
36 SCN1A NM_001165963.1(SCN1A): c.5515C> G (p.Leu1839Val) single nucleotide variant Pathogenic rs794726801 GRCh37 Chromosome 2, 166848270: 166848270
37 SCN1A NM_001165963.1(SCN1A): c.5470G> T (p.Glu1824Ter) single nucleotide variant Pathogenic rs794726769 GRCh37 Chromosome 2, 166848315: 166848315
38 SCN1A NM_001165963.1(SCN1A): c.5470G> T (p.Glu1824Ter) single nucleotide variant Pathogenic rs794726769 GRCh38 Chromosome 2, 165991805: 165991805
39 SCN1A NM_001165963.1(SCN1A): c.5461C> T (p.Gln1821Ter) single nucleotide variant Pathogenic rs794726781 GRCh37 Chromosome 2, 166848324: 166848324
40 SCN1A NM_001165963.1(SCN1A): c.5461C> T (p.Gln1821Ter) single nucleotide variant Pathogenic rs794726781 GRCh38 Chromosome 2, 165991814: 165991814
41 SCN1A NM_001165963.1(SCN1A): c.5404G> T (p.Glu1802Ter) single nucleotide variant Pathogenic rs794726780 GRCh37 Chromosome 2, 166848381: 166848381
42 SCN1A NM_001165963.1(SCN1A): c.5404G> T (p.Glu1802Ter) single nucleotide variant Pathogenic rs794726780 GRCh38 Chromosome 2, 165991871: 165991871
43 SCN1A NM_001165963.1(SCN1A): c.5349_5352dupGGTC (p.Ile1785Glyfs) duplication Pathogenic rs794726741 GRCh37 Chromosome 2, 166848433: 166848436
44 SCN1A NM_001165963.1(SCN1A): c.5349_5352dupGGTC (p.Ile1785Glyfs) duplication Pathogenic rs794726741 GRCh38 Chromosome 2, 165991923: 165991926
45 SCN1A NM_001165963.1(SCN1A): c.5334delG (p.Asn1779Thrfs) deletion Pathogenic rs794726783 GRCh37 Chromosome 2, 166848451: 166848451
46 SCN1A NM_001165963.1(SCN1A): c.5334delG (p.Asn1779Thrfs) deletion Pathogenic rs794726783 GRCh38 Chromosome 2, 165991941: 165991941
47 SCN1A NM_001165963.1(SCN1A): c.5297_5298delTT (p.Phe1766Cysfs) deletion Pathogenic rs794726832 GRCh37 Chromosome 2, 166848487: 166848488
48 SCN1A NM_001165963.1(SCN1A): c.5297_5298delTT (p.Phe1766Cysfs) deletion Pathogenic rs794726832 GRCh38 Chromosome 2, 165991977: 165991978
49 SCN1A NM_001165963.1(SCN1A): c.5284_5291dupGGAATTTT (p.Phe1764Leufs) duplication Pathogenic rs794726814 GRCh37 Chromosome 2, 166848494: 166848501
50 SCN1A NM_001165963.1(SCN1A): c.5284_5291dupGGAATTTT (p.Phe1764Leufs) duplication Pathogenic rs794726814 GRCh38 Chromosome 2, 165991984: 165991991

Copy number variations for Epileptic Encephalopathy, Early Infantile, 6 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 138448 2 163500000 169500000 Translocation SCN1A severe myoclonic epilepsy of infancy
2 138574 2 166553915 166638395 Copy number SCN1A Dravet syndrome
3 196155 5 159900000 167400000 Translocation severe myoclonic epilepsy of infancy

Expression for Epileptic Encephalopathy, Early Infantile, 6

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 6.

Pathways for Epileptic Encephalopathy, Early Infantile, 6

Pathways related to Epileptic Encephalopathy, Early Infantile, 6 according to KEGG:

38
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728

Pathways related to Epileptic Encephalopathy, Early Infantile, 6 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 KCNT1 SCN1A SCN1B SCN2A SCN2B SCN3A
2
Show member pathways
13.32 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
3
Show member pathways
12.92 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
4
Show member pathways
12.83 GABRA1 GABRB3 GABRG2 KCNQ2 STXBP1
5
Show member pathways
12.7 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
6
Show member pathways
12.51 KCNT1 SCN1A SCN1B SCN2A SCN2B SCN3A
7 12.39 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN8A
8
Show member pathways
12.37 GABRA1 GABRB3 GABRD GABRG2
9
Show member pathways
12.26 GABRA1 GABRB3 GABRD GABRG2
10
Show member pathways
11.88 GABRA1 GABRB3 GABRG2
11
Show member pathways
11.87 GABRA1 SCN2A SCN3A SCN9A
12
Show member pathways
11.65 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
13
Show member pathways
11.57 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
14 11.31 GABRA1 GABRB3 GABRD GABRG2
15
Show member pathways
11.29 GABRA1 GABRB3 GABRG2
16 10.9 GABRA1 GABRB3 GABRD GABRG2
17
Show member pathways
10.8 GABRA1 GABRG2
18 10.7 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A

GO Terms for Epileptic Encephalopathy, Early Infantile, 6

Cellular components related to Epileptic Encephalopathy, Early Infantile, 6 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.85 GABRA1 GABRB3 GABRD GABRG2
2 axon GO:0030424 9.8 GABRG2 SCN1A SCN2A SCN3A SCN8A SCN9A
3 GABA-ergic synapse GO:0098982 9.78 GABRA1 GABRB3 GABRD GABRG2
4 postsynapse GO:0098794 9.73 GABRA1 GABRG2 STXBP1
5 chloride channel complex GO:0034707 9.73 GABRA1 GABRB3 GABRD GABRG2
6 intercalated disc GO:0014704 9.71 SCN1A SCN1B SCN2A
7 T-tubule GO:0030315 9.7 SCN1A SCN1B SCN2A
8 axon initial segment GO:0043194 9.69 KCNQ2 SCN1A SCN8A
9 sodium channel complex GO:0034706 9.5 SCN1A SCN1B SCN2A
10 GABA-A receptor complex GO:1902711 9.46 GABRA1 GABRB3 GABRD GABRG2
11 node of Ranvier GO:0033268 9.35 KCNQ2 SCN1A SCN1B SCN2A SCN8A
12 voltage-gated sodium channel complex GO:0001518 9.17 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
13 membrane GO:0016020 10.36 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNT1
14 plasma membrane GO:0005886 10.33 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNT1
15 integral component of membrane GO:0016021 10.27 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNT1
16 integral component of plasma membrane GO:0005887 10.15 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10

Biological processes related to Epileptic Encephalopathy, Early Infantile, 6 according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.91 GABRA1 GABRB3 GABRD GABRG2 KCNT1 SCN1A
2 sodium ion transport GO:0006814 9.91 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
3 regulation of ion transmembrane transport GO:0034765 9.86 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
4 chloride transmembrane transport GO:1902476 9.85 GABRA1 GABRB3 GABRD GABRG2
5 chloride transport GO:0006821 9.84 GABRA1 GABRB3 GABRD GABRG2
6 nervous system process GO:0050877 9.8 GABRA1 GABRB3 GABRD GABRG2
7 neuronal action potential GO:0019228 9.8 SCN1A SCN2A SCN3A SCN8A SCN9A
8 regulation of postsynaptic membrane potential GO:0060078 9.75 GABRA1 GABRD GABRG2
9 gamma-aminobutyric acid signaling pathway GO:0007214 9.73 GABRA1 GABRB3 GABRG2
10 membrane depolarization during action potential GO:0086010 9.72 SCN1A SCN2A SCN3A SCN8A SCN9A
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.7 SCN1A SCN1B SCN2B
12 sodium ion transmembrane transport GO:0035725 9.7 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
13 cellular response to histamine GO:0071420 9.65 GABRA1 GABRB3 GABRG2
14 ion transmembrane transport GO:0034220 9.65 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 SCN1A
15 regulation of sodium ion transmembrane transporter activity GO:2000649 9.61 SCN1B SCN2B
16 synaptic transmission, GABAergic GO:0051932 9.61 GABRA1 GABRG2
17 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.6 SCN1B SCN2B
18 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.59 SCN1B SCN2B
19 neuronal action potential propagation GO:0019227 9.58 SCN1A SCN1B
20 response to pyrethroid GO:0046684 9.57 SCN1B SCN2B
21 ion transport GO:0006811 9.47 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNT1
22 transmembrane transport GO:0055085 10.05 KCNQ2 SCN1A SCN2A SCN3A SCN8A SCN9A
23 chemical synaptic transmission GO:0007268 10 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 SCN1B

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 6 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.86 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
2 ion channel activity GO:0005216 9.81 GABRA1 GABRB3 GABRD GABRG2 SCN1A SCN2A
3 chloride channel activity GO:0005254 9.76 GABRA1 GABRB3 GABRD GABRG2
4 extracellular ligand-gated ion channel activity GO:0005230 9.71 GABRA1 GABRB3 GABRD GABRG2
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.67 GABRA1 GABRB3 GABRD GABRG2
6 GABA-A receptor activity GO:0004890 9.62 GABRA1 GABRB3 GABRD GABRG2
7 GABA-gated chloride ion channel activity GO:0022851 9.61 GABRA1 GABRB3 GABRG2
8 benzodiazepine receptor activity GO:0008503 9.51 GABRA1 GABRG2
9 sodium channel activity GO:0005272 9.5 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
10 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.49 GABRA1 GABRG2
11 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.48 SCN1B SCN2B
12 voltage-gated sodium channel activity GO:0005248 9.17 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A

Sources for Epileptic Encephalopathy, Early Infantile, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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