ICEGTC
MCID: EPL184
MIFTS: 68

Epileptic Encephalopathy, Early Infantile, 6 (ICEGTC)

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 seizure disorder and encephalopathy, and has symptoms including ataxia, myoclonic seizures and absence 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 Developmental Biology. 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
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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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 seizure disorder 31.3 KCNQ2 SCN1A SCN2A
2 encephalopathy 31.3 PCDH19 SCN1A SLC25A22 STXBP1
3 early myoclonic encephalopathy 31.2 GABRG2 SCN1A SCN1B SLC25A22
4 epilepsy with generalized tonic-clonic seizures 31.1 SCN1A SCN2A
5 myoclonic epilepsy of infancy 31.1 GABRG2 SCN1A SCN8A
6 genetic epilepsy with febrile seizures plus 31.0 SCN1A SCN9A
7 febrile seizures 30.6 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN9A
8 lennox-gastaut syndrome 30.6 GABRA1 GABRB3 GABRG2 SCN1A STXBP1
9 epileptic encephalopathy, early infantile, 9 30.4 PCDH10 PCDH19 SCN1A
10 west syndrome 30.3 KCNQ2 SCN1A SCN2A SCN8A STXBP1
11 epilepsy 30.3 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH19
12 childhood absence epilepsy 30.2 GABRA1 GABRB3 GABRG2 PCDH19 SCN1B WARS
13 generalized epilepsy with febrile seizures plus 30.1 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN2A
14 focal epilepsy 30.0 GABRD GABRG2 SCN1A SCN2A SCN3A SCN8A
15 generalized epilepsy with febrile seizures plus, type 2 11.1
16 scn1a-related seizure disorders 11.1
17 febrile infection-related epilepsy syndrome 10.4 PCDH19 SCN1A
18 generalized epilepsy with febrile seizures plus, type 1 10.4 SCN1A SCN1B
19 coffin-siris syndrome 4 10.4 SCN2A SCN8A SCN9A
20 status epilepticus 10.4
21 deafness, autosomal dominant 16 10.4 SCN2A SCN3A
22 malignant migrating partial seizures of infancy 10.4 SCN1A SCN2A SLC25A22
23 epilepsy, nocturnal frontal lobe, 1 10.3 GABRG2 KCNQ2 SCN1A SCN1B
24 benign familial neonatal epilepsy 10.3 KCNQ2 SCN2A SCN3A
25 undetermined early-onset epileptic encephalopathy 10.3 SCN3A SCN8A STXBP1
26 mental retardation, x-linked, syndromic, hedera type 10.3 GABRA1 SCN2A
27 autoimmune lymphoproliferative syndrome 10.3
28 lymphoproliferative syndrome 10.3
29 benign familial infantile epilepsy 10.3 KCNQ2 SCN1B SCN2A SCN8A
30 visual epilepsy 10.3 KCNQ2 SCN1A SCN2A STXBP1
31 benign epilepsy with centrotemporal spikes 10.3 GABRG2 KCNQ2 SCN1B SCN2A
32 autism 10.3
33 benign neonatal seizures 10.3 KCNQ2 SCN2A
34 seizures, benign familial infantile, 3 10.3 GABRG2 KCNQ2 SCN1A SCN1B SCN2A
35 childhood electroclinical syndrome 10.2 GABRA1 GABRB3 GABRG2 WARS
36 trigeminal neuralgia 10.2 SCN3A SCN9A
37 adolescence-adult electroclinical syndrome 10.2 GABRA1 GABRB3 GABRD GABRG2 SCN1A
38 neonatal period electroclinical syndrome 10.1 KCNQ2 SCN1A SCN2A SCN8A SLC25A22 STXBP1
39 epilepsy, idiopathic generalized 10 10.1 GABRA1 GABRB3 GABRD GABRG2 SCN1A SCN2A
40 right bundle branch block 10.1 SCN1B SCN2B
41 epileptic encephalopathy, early infantile, 52 10.1
42 autism spectrum disorder 10.1
43 myoclonus 10.1
44 hyperinsulinism 10.0
45 hemiplegia 10.0
46 movement disease 10.0
47 infancy electroclinical syndrome 10.0 GABRG2 KCNQ2 PCDH10 PCDH19 SCN1A SCN1B
48 cystic fibrosis 9.9
49 disorganization, mouse, homolog of 9.9
50 epileptic encephalopathy, early infantile, 4 9.9

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 27)
# 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 60 33 occasional (7.5%) Occasional (29-5%) HP:0002384
13 generalized tonic-clonic seizures with focal onset 60 33 occasional (7.5%) Occasional (29-5%) HP:0007334
14 absence seizure 60 33 Very frequent (99-80%) HP:0002121
15 seizures 60 Very frequent (99-80%)
16 behavioral abnormality 60 Frequent (79-30%)
17 global developmental delay 33 HP:0001263
18 motor delay 33 HP:0001270
19 epileptic encephalopathy 33 HP:0200134
20 generalized seizures 60 Very frequent (99-80%)
21 status epilepticus 33 HP:0002133
22 mental deterioration 33 HP:0001268
23 cerebral atrophy 33 HP:0002059
24 postnatal microcephaly 33 HP:0005484
25 cerebral visual impairment 33 HP:0100704
26 pschomotor retardation 60 Very frequent (99-80%)
27 hemiclonic seizures 33 HP:0006813

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
status epilepticus
mental deterioration
myoclonic seizures
absence 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, myoclonic seizures, absence 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 10.1 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH19
2 growth/size/body region MP:0005378 9.93 GABRA1 GABRB3 GABRG2 KCNQ2 PCDH10 SCN1A
3 mortality/aging MP:0010768 9.83 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10
4 nervous system MP:0003631 9.47 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10

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 1994-09-7, 94-09-7 2337
6
tannic acid Approved Phase 3,Phase 2 1401-55-4
7 Anticonvulsants Phase 3,Phase 2,Phase 1
8 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
9 Epidiolex Phase 3,Phase 2,Phase 1
10 Neurotransmitter Agents Phase 3,Phase 1,Phase 2
11 Serotonin Uptake Inhibitors Phase 3,Phase 1,Phase 2
12 Serotonin Agents Phase 3,Phase 1,Phase 2
13 Neurotransmitter Uptake Inhibitors Phase 3,Phase 1,Phase 2
14 Central Nervous System Depressants Phase 3
15 GABA Agents Phase 3
16 GABA-A Receptor Agonists Phase 3
17 Tranquilizing Agents Phase 3
18 Anti-Anxiety Agents Phase 3
19 Psychotropic Drugs Phase 3
20 GABA Agonists 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 Anti-Arrhythmia Agents Phase 2
25 Vasodilator Agents Phase 2
26 calcium channel blockers Phase 2
27 Calcium, Dietary 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 Turmeric extract Not Applicable
34 Protective Agents Not Applicable
35 Antioxidants Not Applicable
36 Epinephryl borate

Interventional clinical trials:

(show all 38)
# 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 A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
12 Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure Disorder Completed NCT02318602 Phase 3 Cannabidiol Oral Solution
13 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
14 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
15 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
16 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome Active, not recruiting NCT02758626 Phase 2 ataluren;Placebo
17 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
18 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
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 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
21 Cannabinoid Therapy for Pediatric Epilepsy Active, not recruiting NCT02983695 Phase 1 TIL-TC150
22 Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant Epilepsy Active, not recruiting NCT02286986 Phase 1 Cannabidiol
23 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
24 Treatment of Gait Disorders in Children With Dravet Syndrome Recruiting NCT03857451
25 Stiripentol in Dravet Syndrome No longer available NCT01533506 stiripentol
26 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Available NCT01983722 Stiripentol
27 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314 Stiripentol
28 Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies No longer available NCT02239276 Stiripentol
29 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
30 Cardiac Arrhythmias in Dravet Syndrome Completed NCT02415686
31 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
32 ZX008 Expanded Access Protocol Available NCT03780127 Fenfluramine Hydrochloride
33 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
34 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680 Not Applicable
35 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
36 Natural History of Rett Syndrome & Related Disorders Recruiting NCT02738281
37 Risk Factors for Sudden Unexplained Death in Epilepsy Recruiting NCT01662453
38 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 SCN1A SCN9A

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, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 6

Articles related to Epileptic Encephalopathy, Early Infantile, 6:

(show top 50) (show all 425)
# 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
Cannabidiol as adjunctive treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome. ( 30938373 )
2019
6
Long-term safety and efficacy of cannabidiol in children and adults with treatmentresistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results. ( 31022635 )
2019
7
Efficacy of Stiripentol and the Clinical Outcome in Dravet Syndrome. ( 30362398 )
2019
8
Behavior problems and health-related quality of life in Dravet syndrome. ( 30578097 )
2019
9
Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. ( 30605686 )
2019
10
Caregiver impact and health service use in high and low severity Dravet syndrome: A multinational cohort study. ( 30616222 )
2019
11
Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain. ( 30638257 )
2019
12
Efficacy of the ketogenic diet in Chinese children with Dravet syndrome: A focus on neuropsychological development. ( 30641252 )
2019
13
Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need. ( 30642535 )
2019
14
Motor development in children with Dravet syndrome. ( 30644536 )
2019
15
Drug repurposing for Dravet syndrome in scn1Lab-/- mutant zebrafish. ( 30663052 )
2019
16
Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. ( 30673603 )
2019
17
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations. ( 30805006 )
2019
18
Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures. ( 30828793 )
2019
19
C57BL/6J and C57BL/6N substrains differentially influence phenotype severity in the Scn1a+/- mouse model of Dravet syndrome. ( 30868126 )
2019
20
Longitudinal change of cardiac electrical and autonomic function and potential risk factors in children with dravet syndrome. ( 30870727 )
2019
21
Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany. ( 30871879 )
2019
22
Stiripentol for the treatment of seizures associated with Dravet syndrome. ( 30900478 )
2019
23
SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases. ( 30921204 )
2019
24
Gait deviations in patients with dravet syndrome: A systematic review. ( 30940509 )
2019
25
Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome. ( 30996233 )
2019
26
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome. ( 31001185 )
2019
27
Stiripentol for the treatment of seizures in Dravet syndrome. ( 31017478 )
2019
28
Disordered breathing in a mouse model of Dravet syndrome. ( 31025941 )
2019
29
Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome. ( 31035242 )
2019
30
Is Targeting of Compensatory Ion Channel Gene Expression a Viable Therapeutic Strategy for Dravet Syndrome? ( 31035820 )
2019
31
Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures in a mouse model of Dravet syndrome. ( 31045243 )
2019
32
Double somatic mosaicism in a child with Dravet syndrome. ( 31086826 )
2019
33
A novel variant in SCN1A gene associated with Dravet syndrome. ( 31102827 )
2019
34
Individualized treatment approaches: Fenfluramine, a novel antiepileptic medication for the treatment of seizures in Dravet syndrome. ( 30269941 )
2019
35
Gene expression profiling in a mouse model of Dravet syndrome. ( 30347190 )
2019
36
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. ( 29558884 )
2018
37
Acute encephalopathy after febrile status epilepticus: an underdiagnosed, misunderstood complication of Dravet syndrome. ( 29655225 )
2018
38
The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. ( 29573403 )
2018
39
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. ( 30558019 )
2018
40
Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study. ( 30353809 )
2018
41
Emerging drugs for the treatment of Dravet syndrome. ( 30482063 )
2018
42
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. ( 30526861 )
2018
43
Long-term cannabidiol treatment in patients with Dravet syndrome: An open-label extension trial. ( 30582156 )
2018
44
A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene. ( 30872930 )
2018
45
Population Pharmacokinetics of Stiripentol in Paediatric Patients with Dravet Syndrome Treated with Stiripentol, Valproate and Clobazam Combination Therapy. ( 28819726 )
2018
46
Cannabidiol reduced frequency of convulsive seizures in drug resistant Dravet syndrome. ( 28939549 )
2018
47
Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. ( 28984349 )
2018
48
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
49
Sleep problems in Dravet syndrome: a modifiable comorbidity. ( 29110313 )
2018
50
Is epilepsy the cause of comorbidities in Dravet syndrome? ( 29124748 )
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 1377)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.184A> G (p.Ile62Val) single nucleotide variant Uncertain significance rs121908920 GRCh37 Chromosome 2, 167168083: 167168083
2 SCN9A NM_002977.3(SCN9A): c.184A> G (p.Ile62Val) single nucleotide variant Uncertain significance rs121908920 GRCh38 Chromosome 2, 166311573: 166311573
3 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
4 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
5 SCN1A NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His) single nucleotide variant Pathogenic rs121918622 GRCh37 Chromosome 2, 166848842: 166848842
6 SCN1A NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His) single nucleotide variant Pathogenic rs121918622 GRCh38 Chromosome 2, 165992332: 165992332
7 SCN1A SCN1A, 2-BP DEL, 657AG deletion Pathogenic
8 SCN1A NM_006920.5(SCN1A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918624 GRCh37 Chromosome 2, 166909392: 166909392
9 SCN1A NM_006920.5(SCN1A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918624 GRCh38 Chromosome 2, 166052882: 166052882
10 SCN1A NM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe) single nucleotide variant Pathogenic rs121918625 GRCh37 Chromosome 2, 166893031: 166893031
11 SCN1A NM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe) single nucleotide variant Pathogenic rs121918625 GRCh38 Chromosome 2, 166036521: 166036521
12 SCN1A NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile) single nucleotide variant Pathogenic rs121918629 GRCh37 Chromosome 2, 166848659: 166848659
13 SCN1A NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile) single nucleotide variant Pathogenic rs121918629 GRCh38 Chromosome 2, 165992149: 165992149
14 SCN1A NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe) single nucleotide variant Pathogenic rs121918630 GRCh37 Chromosome 2, 166850677: 166850677
15 SCN1A NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe) single nucleotide variant Pathogenic rs121918630 GRCh38 Chromosome 2, 165994167: 165994167
16 SCN1A SCN1A, 1-BP DEL, 2528G deletion Pathogenic
17 SCN1A SCN1A, EX21-26DEL deletion Pathogenic
18 SCN1A SCN1A, 6.5-KB DEL deletion Pathogenic
19 SCN1A SCN1A, 1-BP DEL, 3608A deletion Pathogenic
20 SCN1A NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu) single nucleotide variant Pathogenic rs397514458 GRCh37 Chromosome 2, 166848779: 166848779
21 SCN1A NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu) single nucleotide variant Pathogenic rs397514458 GRCh38 Chromosome 2, 165992269: 165992269
22 SCN1A NM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly) single nucleotide variant Pathogenic rs397514459 GRCh37 Chromosome 2, 166895938: 166895938
23 SCN1A NM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly) single nucleotide variant Pathogenic rs397514459 GRCh38 Chromosome 2, 166039428: 166039428
24 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh37 Chromosome 2, 167137018: 167137018
25 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh38 Chromosome 2, 166280508: 166280508
26 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh37 Chromosome 2, 167129256: 167129256
27 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh38 Chromosome 2, 166272746: 166272746
28 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh37 Chromosome 2, 166903445: 166903445
29 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh38 Chromosome 2, 166046935: 166046935
30 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh37 Chromosome 2, 166897864: 166897864
31 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh38 Chromosome 2, 166041354: 166041354
32 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh37 Chromosome 2, 166868775: 166868775
33 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh38 Chromosome 2, 166012265: 166012265
34 SCN1A NM_006920.4(SCN1A): c.1066A> G (p.Arg356Gly) single nucleotide variant not provided rs121917920 GRCh37 Chromosome 2, 166904241: 166904241
35 SCN1A NM_006920.4(SCN1A): c.1066A> G (p.Arg356Gly) single nucleotide variant not provided rs121917920 GRCh38 Chromosome 2, 166047731: 166047731
36 SCN1A NM_006920.4(SCN1A): c.1072C> A (p.Pro358Thr) single nucleotide variant not provided rs121917923 GRCh37 Chromosome 2, 166904235: 166904235
37 SCN1A NM_006920.4(SCN1A): c.1072C> A (p.Pro358Thr) single nucleotide variant not provided rs121917923 GRCh38 Chromosome 2, 166047725: 166047725
38 SCN1A NM_006920.4(SCN1A): c.1098T> A (p.Asp366Glu) single nucleotide variant not provided rs121917958 GRCh37 Chromosome 2, 166904209: 166904209
39 SCN1A NM_006920.4(SCN1A): c.1098T> A (p.Asp366Glu) single nucleotide variant not provided rs121917958 GRCh38 Chromosome 2, 166047699: 166047699
40 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh37 Chromosome 2, 166904177: 166904177
41 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh38 Chromosome 2, 166047667: 166047667
42 SCN1A NM_006920.4(SCN1A): c.1149C> G (p.Phe383Leu) single nucleotide variant not provided rs121917939 GRCh37 Chromosome 2, 166904158: 166904158
43 SCN1A NM_006920.4(SCN1A): c.1149C> G (p.Phe383Leu) single nucleotide variant not provided rs121917939 GRCh38 Chromosome 2, 166047648: 166047648
44 SCN1A NM_006920.4(SCN1A): c.1177C> A (p.Arg393Ser) single nucleotide variant not provided rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
45 SCN1A NM_006920.4(SCN1A): c.1177C> A (p.Arg393Ser) single nucleotide variant not provided rs121917929 GRCh38 Chromosome 2, 166046970: 166046970
46 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
47 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh38 Chromosome 2, 166046970: 166046970
48 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh37 Chromosome 2, 166903479: 166903479
49 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh38 Chromosome 2, 166046969: 166046969
50 SCN1A NM_006920.4(SCN1A): c.1207T> C (p.Phe403Leu) single nucleotide variant not provided rs121917966 GRCh37 Chromosome 2, 166903450: 166903450

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
2
Show member pathways
12.87 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
3
Show member pathways
12.82 GABRA1 GABRB3 GABRG2 KCNQ2 STXBP1
4
Show member pathways
12.7 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
5
Show member pathways
12.5 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
6 12.39 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN8A
7
Show member pathways
12.36 GABRA1 GABRB3 GABRD GABRG2
8
Show member pathways
12.25 GABRA1 GABRB3 GABRD GABRG2
9
Show member pathways
11.87 GABRA1 GABRB3 GABRG2
10
Show member pathways
11.87 GABRA1 SCN2A SCN3A SCN9A
11
Show member pathways
11.65 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
12
Show member pathways
11.57 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
13 11.31 GABRA1 GABRB3 GABRD GABRG2
14
Show member pathways
11.29 GABRA1 GABRB3 GABRG2
15 10.85 GABRA1 GABRB3 GABRD GABRG2
16
Show member pathways
10.79 GABRA1 GABRG2
17 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 postsynapse GO:0098794 9.73 GABRA1 GABRG2 STXBP1
4 GABA-ergic synapse GO:0098982 9.73 GABRA1 GABRB3 GABRD GABRG2
5 intercalated disc GO:0014704 9.71 SCN1A SCN1B SCN2A
6 chloride channel complex GO:0034707 9.71 GABRA1 GABRB3 GABRD GABRG2
7 T-tubule GO:0030315 9.7 SCN1A SCN1B SCN2A
8 axon initial segment GO:0043194 9.65 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 integral component of membrane GO:0016021 10.37 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10
14 plasma membrane GO:0005886 10.36 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 PCDH10
15 membrane GO:0016020 10.32 CYP2C19 GABRA1 GABRB3 GABRD GABRG2 KCNQ2
16 integral component of plasma membrane GO:0005887 10.11 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 chemical synaptic transmission GO:0007268 9.91 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 SCN2B
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 regulation of membrane potential GO:0042391 9.85 GABRA1 GABRB3 GABRD GABRG2 SCN1A
6 chloride transport GO:0006821 9.84 GABRA1 GABRB3 GABRD GABRG2
7 nervous system process GO:0050877 9.8 GABRA1 GABRB3 GABRD GABRG2
8 neuronal action potential GO:0019228 9.8 SCN1A SCN2A SCN3A SCN8A SCN9A
9 regulation of postsynaptic membrane potential GO:0060078 9.75 GABRA1 GABRD GABRG2
10 gamma-aminobutyric acid signaling pathway GO:0007214 9.73 GABRA1 GABRB3 GABRG2
11 membrane depolarization during action potential GO:0086010 9.72 SCN1A SCN2A SCN3A SCN8A SCN9A
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.7 SCN1A SCN1B SCN2B
13 sodium ion transmembrane transport GO:0035725 9.7 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
14 cellular response to histamine GO:0071420 9.65 GABRA1 GABRB3 GABRG2
15 ion transmembrane transport GO:0034220 9.65 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 SCN1A
16 regulation of sodium ion transmembrane transporter activity GO:2000649 9.61 SCN1B SCN2B
17 synaptic transmission, GABAergic GO:0051932 9.61 GABRA1 GABRG2
18 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.6 SCN1B SCN2B
19 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.59 SCN1B SCN2B
20 neuronal action potential propagation GO:0019227 9.58 SCN1A SCN1B
21 response to pyrethroid GO:0046684 9.57 SCN1B SCN2B
22 ion transport GO:0006811 9.44 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 SCN1A
23 transmembrane transport GO:0055085 10.05 KCNQ2 SCN1A SCN2A SCN3A SCN8A SCN9A

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
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39 LifeMap
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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