MCID: EPL184
MIFTS: 67

Epileptic Encephalopathy, Early Infantile, 6

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 6

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

Name: Epileptic Encephalopathy, Early Infantile, 6 57 75 38
Dravet Syndrome 57 12 53 54 59 75 37 13 55 15
Smei 57 12 53 59 75
Severe Myoclonic Epilepsy of Infancy 57 53 54 59
Severe Myoclonic Epilepsy in Infancy 12 75 29 6
Eiee6 57 75
Sme 53 3
Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures 73
Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 75
Encephalopathy, Epileptic, Early Infantile, Type 6 40
Severe Myoclonic Epilepsy of Infancy; Smei 57
Myoclonic Epilepsy, Severe, of Infancy 53
Smei-Borderland More Than One Feature 75
Severe Myoclonus Epilepsy of Infancy 59
Infantile Severe Myoclonic Epilepsy 73
Smei-Borderland-Myoclonic Seizures 75
Dravet Syndrome, Modifier of 57
Smei-Borderland-Spike Wave 75
Borderline Smei 75
Smei-Borderland 75
Smeb-Sw 75
Smeb-M 75
Smeb-O 75
Icegtc 75
Smeb 75
Ds 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
epileptic encephalopathy, early infantile, 6:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 6

OMIM : 57 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)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 6, also known as dravet syndrome, is related to genetic epilepsy with febrile seizures plus and myoclonic epilepsy of infancy, 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 Stiripentol have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related phenotypes are ataxia and muscular hypotonia

Disease Ontology : 12 An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.

NIH Rare Diseases : 53 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. 

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NINDS : 54 Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy.  It appears during the first year of life with frequent febrile seizures – fever-related seizures that, by definition, are rare beyond age 5.  Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms).  Status epilepticus – a state of continuous seizure requiring emergency medical care – also may occur.  Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.  In 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells.  Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene.  In GEFS+, febrile seizures may persist beyond age 5.

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 6

Diseases in the 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 genetic epilepsy with febrile seizures plus 31.5 SCN1A SCN9A
2 myoclonic epilepsy of infancy 31.4 GABRG2 SCN1A SCN8A
3 encephalopathy 31.2 PCDH19 SCN1A SLC25A22 STXBP1
4 febrile seizures 30.6 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN9A
5 epilepsy 30.4 GABRA1 GABRD GABRG2 KCNQ2 KCNT1 SCN1A
6 lennox-gastaut syndrome 30.2 GABRA1 KCNQ2 SCN1A SNRPE STXBP1 TBC1D24
7 infantile epileptic encephalopathy 29.8 PCDH19 SCN1A SCN2A SCN8A SLC25A22 STXBP1
8 focal epilepsy 29.1 GABRD GABRG2 KCNT1 SCN1A SCN2A SCN3A
9 generalized epilepsy with febrile seizures plus 28.5 GABRA1 GABRD GABRG2 KCNQ2 SCN1A SCN1B
10 myoclonic astatic epilepsy 11.2
11 febrile infection-related epilepsy syndrome 10.9 PCDH19 SCN1A
12 generalized epilepsy with febrile seizures plus, type 2 10.9
13 scn1a-related seizure disorders 10.9
14 generalized epilepsy with febrile seizures plus, type 1 10.8 SCN1A SCN1B
15 deafness, autosomal dominant 16 10.8 SCN2A SCN3A
16 epilepsy with generalized tonic-clonic seizures 10.7 SCN1A SCN2A TBC1D24
17 hyperekplexia 10.7 GABRG2 SCN9A TBC1D24
18 benign neonatal seizures 10.7 KCNQ2 SCN2A
19 reflex epilepsy 10.7 TBC1D24 WARS
20 benign familial neonatal epilepsy 10.7 KCNQ2 SCN2A TBC1D24
21 mental retardation, x-linked, syndromic, hedera type 10.6 GABRA1 SCN2A
22 epilepsy, nocturnal frontal lobe, 1 10.6 GABRG2 KCNQ2 SCN1A SCN1B
23 epileptic encephalopathy, early infantile, 9 10.5 KCNQ2 PCDH10 PCDH19 SCN1A
24 seizure disorder 10.5 KCNQ2 SCN1A SCN2A STXBP1
25 early myoclonic encephalopathy 10.5 GABRG2 SCN1A SCN1B SLC25A22
26 epileptic encephalopathy, early infantile, 1 10.5 KCNQ2 TBC1D24
27 benign familial infantile epilepsy 10.5 KCNQ2 SCN1B SCN2A SCN8A
28 seizures, benign familial infantile, 3 10.5 GABRG2 KCNQ2 SCN1A SCN1B SCN2A
29 trigeminal neuralgia 10.4 SCN3A SCN9A
30 adolescence-adult electroclinical syndrome 10.4 GABRA1 GABRD GABRG2 SCN1A TBC1D24
31 childhood absence epilepsy 10.3 GABRA1 GABRG2 PCDH19 SCN1B WARS
32 childhood electroclinical syndrome 10.3 GABRA1 GABRG2 KCNQ2 TBC1D24 WARS
33 malignant migrating partial seizures of infancy 10.3 KCNT1 SCN1A SCN2A SLC25A22 TBC1D24
34 epilepsy, idiopathic generalized 10 10.2 GABRA1 GABRD GABRG2 SCN1A SCN2A TBC1D24
35 neuronitis 10.2
36 status epilepticus 10.2
37 right bundle branch block 10.1 SCN1B SCN2B
38 benign epilepsy with centrotemporal spikes 10.1 GABRG2 KCNQ2 KCNT1 SCN1B SCN2A TBC1D24
39 autism 10.1
40 neonatal period electroclinical syndrome 9.9 KCNQ2 SCN1A SCN2A SLC25A22 SNRPE STXBP1
41 aging 9.9
42 hepatitis 9.9
43 myoclonus 9.9
44 autism spectrum disorder 9.8
45 cerebritis 9.8
46 neuropathy 9.8
47 type i 9.8
48 epileptic encephalopathy, early infantile, 15 9.6 KCNQ2 KCNT1 PCDH19 SCN1A SCN2A SCN8A
49 west syndrome 9.6 KCNQ2 KCNT1 SCN1A SCN2A SCN8A SLC25A22
50 infancy electroclinical syndrome 9.4 GABRG2 KCNQ2 KCNT1 PCDH10 PCDH19 SCN1A

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
absence seizures
mental deterioration
status epilepticus
delayed psychomotor development
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

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

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
4 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
5 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
6 neurodevelopmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0012758
7 absence seizures 59 32 Very frequent (99-80%) HP:0002121
8 febrile seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002373
9 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
10 focal seizures with impairment of consciousness or awareness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002384
11 pschomotor retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0025356
12 focal clonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002266
13 obtundation status 59 32 frequent (33%) Frequent (79-30%) HP:0011151
14 seizures 59 Very frequent (99-80%)
15 behavioral abnormality 59 Frequent (79-30%)
16 global developmental delay 32 HP:0001263
17 generalized seizures 59 Very frequent (99-80%)
18 mental deterioration 32 HP:0001268
19 motor delay 32 HP:0001270
20 status epilepticus 32 HP:0002133
21 cerebral atrophy 32 HP:0002059
22 postnatal microcephaly 32 HP:0005484
23 epileptic encephalopathy 32 HP:0200134
24 cortical visual impairment 32 HP:0100704
25 bilateral convulsive seizures 59 Occasional (29-5%)
26 hemiclonic seizures 32 HP:0006813
27 generalized tonic-clonic seizures with focal onset 32 occasional (7.5%) HP:0007334

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


ataxia, absence seizures, myoclonic seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 GABRA1 GABRD GABRG2 KCNQ2 KCNT1 PCDH19
2 growth/size/body region MP:0005378 9.9 SNX27 GABRA1 GABRG2 KCNQ2 PCDH10 SCN1A
3 mortality/aging MP:0010768 9.8 GABRA1 GABRD GABRG2 KCNQ2 PCDH10 SCN1A
4 nervous system MP:0003631 9.47 SCN2A SCN2B SCN8A SCN9A STXBP1 GABRA1

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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3,Phase 2 64-17-5 702
2
Stiripentol Approved Phase 3 49763-96-4
3
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
4 Strawberry Approved, Nutraceutical Phase 3,Phase 2
5 Anticonvulsants Phase 3
6 Pharmaceutical Solutions Phase 3,Phase 2
7 Neurotransmitter Agents Phase 3
8 Neurotransmitter Uptake Inhibitors Phase 3
9 Serotonin Agents Phase 3
10 Serotonin Uptake Inhibitors Phase 3
11
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
12
Verapamil Approved Phase 2 52-53-9 2520
13 Anti-Arrhythmia Agents Phase 2
14 calcium channel blockers Phase 2
15 Calcium, Dietary Phase 2
16 Vasodilator Agents Phase 2
17
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P;Placebo control
2 Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure Disorder Completed NCT02318602 Phase 3 Cannabidiol Oral Solution
3 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
4 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Recruiting NCT02224703 Phase 3 GWP42003-P;Placebo Control
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 Active, not recruiting NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
6 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
7 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)
8 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)
9 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
10 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
11 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
12 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
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;Placebo control
15 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome 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 Enrolling by invitation NCT03467113 Phase 1, Phase 2 ZX008 02 and 0.8 mg/kg/day
17 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
18 Cannabinoid Therapy for Pediatric Epilepsy Active, not recruiting NCT02983695 Phase 1 TIL-TC150
19 Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant Epilepsy Active, not recruiting NCT02286986 Phase 1 Cannabidiol
20 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Unknown status NCT02815540 Not Applicable Cannabadiol
21 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
22 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
23 Cardiac Arrhythmias in Dravet Syndrome Recruiting NCT02415686
24 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
25 Risk Factors for Sudden Unexplained Death in Epilepsy Recruiting NCT01662453
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 Available NCT02239276 Stiripentol
29 Stiripentol in Dravet Syndrome No longer available NCT01533506 stiripentol
30 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
31 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680 Not Applicable

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 29 SCN1A SCN9A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 6

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

41
Brain, Heart, Testes, Skin, Cortex

Publications for Epileptic Encephalopathy, Early Infantile, 6

Articles related to Epileptic Encephalopathy, Early Infantile, 6:

(show top 50) (show all 305)
# Title Authors Year
1
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. ( 29558884 )
2018
2
Sleep problems in Dravet syndrome: a modifiable comorbidity. ( 29110313 )
2018
3
The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research. ( 28431364 )
2017
4
Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. ( 28186331 )
2017
5
Impaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome. ( 28356460 )
2017
6
Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome. ( 28525652 )
2017
7
Behavioral Comorbidities and Drug Treatments in a Zebrafish<i>scn1lab</i>Model of Dravet Syndrome. ( 28812061 )
2017
8
Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2(+/Q390X) mice. ( 28505490 )
2017
9
[Analysis of SCN1A deletions or duplications in patients with Dravet syndrome]. ( 29188601 )
2017
10
Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome. ( 28973916 )
2017
11
SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. ( 28079314 )
2017
12
Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome. ( 28490751 )
2017
13
Overexpressing wild-type I^2 subunits rescued the seizure phenotype in Gabrg2(+/Q390X) Dravet syndrome mice. ( 28586508 )
2017
14
Dravet syndrome: Characteristics, comorbidities, and caregiver concerns. ( 28732259 )
2017
15
Dysarthria and broader motor speech deficits in Dravet syndrome. ( 28148630 )
2017
16
Movement-activated cortical myoclonus in Dravet syndrome. ( 28126647 )
2017
17
Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome. ( 28556246 )
2017
18
Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. ( 28284397 )
2017
19
Myoclonic Absence Seizures in Dravet Syndrome. ( 28233668 )
2017
20
Dravet syndrome: a new causative SCN1A mutation? ( 28469861 )
2017
21
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. ( 28794249 )
2017
22
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. ( 28686619 )
2017
23
Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome. ( 28197552 )
2017
24
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. ( 28202706 )
2017
25
Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients. ( 27790834 )
2017
26
Serotonergic modulation as a pharmacological modality in the treatment of Dravet syndrome. ( 28402511 )
2017
27
Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome. ( 28073790 )
2017
28
A mutation in GABRB3 associated with Dravet syndrome. ( 28544625 )
2017
29
Use of social media to assess the effectiveness of vagal nerve stimulation in Dravet syndrome: A caregiver's perspective. ( 28320117 )
2017
30
Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases. ( 28330972 )
2017
31
Supraventricular Tachycardia During Status Epilepticus in Dravet Syndrome: A Link Between Brain and Heart? ( 26803335 )
2016
32
A case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data. ( 27523882 )
2016
33
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection. ( 27045673 )
2016
34
[Genotype and phenotype of female Dravet syndrome with PCDH19 mutations]. ( 27143072 )
2016
35
Two mild cases of Dravet syndrome with truncating mutation of SCN1A. ( 27544716 )
2016
36
Helping Families Cope with the Severe Stress of Dravet Syndrome. ( 27264140 )
2016
37
Dravet syndrome: Not just epilepsy. ( 27316245 )
2016
38
Cognitive-behavioral profiles in teenagers with Dravet syndrome. ( 26797655 )
2016
39
Serotonergic Modulation as Effective Treatment for Dravet Syndrome in a Zebrafish Mutant Model. ( 26822114 )
2016
40
PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. ( 27371789 )
2016
41
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. ( 26841829 )
2016
42
Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A. ( 27653866 )
2016
43
Mortality in Dravet syndrome. ( 27810515 )
2016
44
Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq. ( 27768696 )
2016
45
Crouch Gait in Dravet Syndrome. ( 27909386 )
2016
46
Photosensitivity in Dravet syndrome is under-recognized and related to prognosis. ( 28042998 )
2016
47
Reflex Seizures Triggered by Diaper Change in Dravet Syndrome. ( 26889571 )
2016
48
Analysis of endocannabinoid signaling elements and related proteins in lymphocytes of patients with Dravet syndrome. ( 27069631 )
2016
49
Palliative epilepsy surgery in Dravet syndrome-case series and review of the literature. ( 27465677 )
2016
50
Disorders of early language development in Dravet syndrome. ( 26630186 )
2016

Variations for Epileptic Encephalopathy, Early Infantile, 6

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

75 (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 1040)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1A NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His) single nucleotide variant Pathogenic rs121918622 GRCh37 Chromosome 2, 166848842: 166848842
2 SCN1A NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His) single nucleotide variant Pathogenic rs121918622 GRCh38 Chromosome 2, 165992332: 165992332
3 SCN1A SCN1A, 2-BP DEL, 657AG deletion Pathogenic
4 SCN1A NM_006920.5(SCN1A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918624 GRCh37 Chromosome 2, 166909392: 166909392
5 SCN1A NM_006920.5(SCN1A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918624 GRCh38 Chromosome 2, 166052882: 166052882
6 SCN1A NM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe) single nucleotide variant Pathogenic rs121918625 GRCh37 Chromosome 2, 166893031: 166893031
7 SCN1A NM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe) single nucleotide variant Pathogenic rs121918625 GRCh38 Chromosome 2, 166036521: 166036521
8 SCN1A NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile) single nucleotide variant Pathogenic rs121918629 GRCh37 Chromosome 2, 166848659: 166848659
9 SCN1A NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile) single nucleotide variant Pathogenic rs121918629 GRCh38 Chromosome 2, 165992149: 165992149
10 SCN1A NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe) single nucleotide variant Pathogenic rs121918630 GRCh37 Chromosome 2, 166850677: 166850677
11 SCN1A NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe) single nucleotide variant Pathogenic rs121918630 GRCh38 Chromosome 2, 165994167: 165994167
12 SCN1A SCN1A, 1-BP DEL, 2528G deletion Pathogenic
13 SCN1A SCN1A, EX21-26DEL deletion Pathogenic
14 SCN1A SCN1A, 6.5-KB DEL deletion Pathogenic
15 SCN1A SCN1A, 1-BP DEL, 3608A deletion Pathogenic
16 SCN1A NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu) single nucleotide variant Pathogenic rs397514458 GRCh37 Chromosome 2, 166848779: 166848779
17 SCN1A NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu) single nucleotide variant Pathogenic rs397514458 GRCh38 Chromosome 2, 165992269: 165992269
18 SCN1A NM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly) single nucleotide variant Pathogenic rs397514459 GRCh37 Chromosome 2, 166895938: 166895938
19 SCN1A NM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly) single nucleotide variant Pathogenic rs397514459 GRCh38 Chromosome 2, 166039428: 166039428
20 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh37 Chromosome 2, 166904177: 166904177
21 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh38 Chromosome 2, 166047667: 166047667
22 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
23 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh38 Chromosome 2, 166046970: 166046970
24 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh37 Chromosome 2, 166903479: 166903479
25 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh38 Chromosome 2, 166046969: 166046969
26 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh37 Chromosome 2, 166900346: 166900346
27 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh38 Chromosome 2, 166043836: 166043836
28 SCN1A NM_006920.4(SCN1A): c.251A> G (p.Tyr84Cys) single nucleotide variant Pathogenic rs121917964 GRCh37 Chromosome 2, 166929881: 166929881
29 SCN1A NM_006920.4(SCN1A): c.251A> G (p.Tyr84Cys) single nucleotide variant Pathogenic rs121917964 GRCh38 Chromosome 2, 166073371: 166073371
30 SCN1A NM_006920.4(SCN1A): c.2804G> A (p.Arg935His) single nucleotide variant Pathogenic rs121917971 GRCh37 Chromosome 2, 166894395: 166894395
31 SCN1A NM_006920.4(SCN1A): c.2804G> A (p.Arg935His) single nucleotide variant Pathogenic rs121917971 GRCh38 Chromosome 2, 166037885: 166037885
32 SCN1A NM_006920.4(SCN1A): c.2816G> A (p.Gly939Glu) single nucleotide variant Pathogenic rs121917972 GRCh37 Chromosome 2, 166894383: 166894383
33 SCN1A NM_006920.4(SCN1A): c.2816G> A (p.Gly939Glu) single nucleotide variant Pathogenic rs121917972 GRCh38 Chromosome 2, 166037873: 166037873
34 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh37 Chromosome 2, 166915162: 166915162
35 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh38 Chromosome 2, 166058652: 166058652
36 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh37 Chromosome 2, 166915161: 166915161
37 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh38 Chromosome 2, 166058651: 166058651
38 SCN1A NM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917912 GRCh37 Chromosome 2, 166868764: 166868764
39 SCN1A NM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917912 GRCh38 Chromosome 2, 166012254: 166012254
40 SCN1A NM_006920.4(SCN1A): c.3970G> A (p.Val1324Met) single nucleotide variant Pathogenic rs121917960 GRCh37 Chromosome 2, 166859263: 166859263
41 SCN1A NM_006920.4(SCN1A): c.3970G> A (p.Val1324Met) single nucleotide variant Pathogenic rs121917960 GRCh38 Chromosome 2, 166002753: 166002753
42 SCN1A NM_006920.4(SCN1A): c.4135G> A (p.Val1379Met) single nucleotide variant Pathogenic rs121917986 GRCh37 Chromosome 2, 166859098: 166859098
43 SCN1A NM_006920.4(SCN1A): c.4135G> A (p.Val1379Met) single nucleotide variant Pathogenic rs121917986 GRCh38 Chromosome 2, 166002588: 166002588
44 SCN1A NM_006920.4(SCN1A): c.4319C> T (p.Pro1440Leu) single nucleotide variant Likely pathogenic rs121917945 GRCh37 Chromosome 2, 166854672: 166854672
45 SCN1A NM_006920.4(SCN1A): c.4319C> T (p.Pro1440Leu) single nucleotide variant Likely pathogenic rs121917945 GRCh38 Chromosome 2, 165998162: 165998162
46 SCN1A NM_006920.4(SCN1A): c.4729T> C (p.Cys1577Arg) single nucleotide variant Likely pathogenic rs121917919 GRCh37 Chromosome 2, 166850746: 166850746
47 SCN1A NM_006920.4(SCN1A): c.4729T> C (p.Cys1577Arg) single nucleotide variant Likely pathogenic rs121917919 GRCh38 Chromosome 2, 165994236: 165994236
48 SCN1A NM_006920.5(SCN1A): c.4789G> T (p.Asp1597Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121917915 GRCh37 Chromosome 2, 166850686: 166850686
49 SCN1A NM_006920.5(SCN1A): c.4789G> T (p.Asp1597Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121917915 GRCh38 Chromosome 2, 165994176: 165994176
50 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Likely pathogenic rs121917995 GRCh37 Chromosome 2, 166848878: 166848878

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:

37
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 KCNT1 SCN1A SCN1B SCN2A SCN2B SCN3A
2
Show member pathways
13.31 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
3
Show member pathways
12.85 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
4
Show member pathways
12.64 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
5
Show member pathways
12.51 KCNT1 SCN1A SCN1B SCN2A SCN2B SCN3A
6 12.39 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN8A
7
Show member pathways
11.85 GABRA1 SCN2A SCN3A SCN9A
8
Show member pathways
11.65 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
9
Show member pathways
11.57 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
10 11.26 GABRA1 GABRD GABRG2
11 10.81 GABRA1 GABRD GABRG2
12
Show member pathways
10.78 GABRA1 GABRG2
13 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 14)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.84 GABRG2 SCN1A SCN2A STXBP1
2 postsynapse GO:0098794 9.7 GABRA1 GABRG2 STXBP1
3 chloride channel complex GO:0034707 9.67 GABRA1 GABRD GABRG2
4 intercalated disc GO:0014704 9.65 SCN1A SCN1B SCN2A
5 T-tubule GO:0030315 9.63 SCN1A SCN1B SCN2A
6 GABA-A receptor complex GO:1902711 9.54 GABRA1 GABRD GABRG2
7 axon initial segment GO:0043194 9.43 KCNQ2 SCN1A SCN8A
8 node of Ranvier GO:0033268 9.35 KCNQ2 SCN1A SCN1B SCN2A SCN8A
9 sodium channel complex GO:0034706 9.33 SCN1A SCN1B SCN2A
10 voltage-gated sodium channel complex GO:0001518 9.17 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
11 membrane GO:0016020 10.36 GABRA1 GABRD GABRG2 KCNQ2 KCNT1 PCDH10
12 integral component of membrane GO:0016021 10.28 GABRA1 GABRD GABRG2 KCNQ2 KCNT1 PCDH10
13 plasma membrane GO:0005886 10.2 GABRA1 GABRD GABRG2 KCNQ2 KCNT1 PCDH10
14 integral component of plasma membrane GO:0005887 10.11 GABRA1 GABRD GABRG2 KCNQ2 PCDH10 PCDH19

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 nervous system development GO:0007399 9.99 KCNQ2 PCDH10 PCDH19 SCN2A SCN2B SCN8A
2 chemical synaptic transmission GO:0007268 9.93 GABRA1 GABRD GABRG2 KCNQ2 SCN1B SCN2B
3 ion transmembrane transport GO:0034220 9.91 GABRA1 GABRD GABRG2 KCNQ2 SCN1A SCN2A
4 sodium ion transport GO:0006814 9.87 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
5 regulation of membrane potential GO:0042391 9.83 GABRA1 GABRD GABRG2 KCNT1 SCN1A
6 membrane depolarization during action potential GO:0086010 9.8 SCN1A SCN2A SCN3A SCN8A SCN9A
7 chloride transmembrane transport GO:1902476 9.77 GABRA1 GABRD GABRG2
8 neuronal action potential GO:0019228 9.77 SCN1A SCN2A SCN3A SCN8A SCN9A
9 regulation of ion transmembrane transport GO:0034765 9.76 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
10 chloride transport GO:0006821 9.75 GABRA1 GABRD GABRG2
11 nervous system process GO:0050877 9.71 GABRA1 GABRD GABRG2
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.65 SCN1A SCN1B SCN2B
13 gamma-aminobutyric acid signaling pathway GO:0007214 9.61 GABRA1 GABRG2
14 regulation of sodium ion transmembrane transporter activity GO:2000649 9.61 SCN1B SCN2B
15 synaptic transmission, GABAergic GO:0051932 9.6 GABRA1 GABRG2
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.58 SCN1B SCN2B
17 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.57 SCN1B SCN2B
18 cellular response to histamine GO:0071420 9.56 GABRA1 GABRG2
19 neuronal action potential propagation GO:0019227 9.55 SCN1A SCN1B
20 response to pyrethroid GO:0046684 9.52 SCN1B SCN2B
21 sodium ion transmembrane transport GO:0035725 9.5 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
22 ion transport GO:0006811 9.44 GABRA1 GABRD GABRG2 KCNQ2 KCNT1 SCN1A
23 transmembrane transport GO:0055085 10.04 KCNQ2 SCN1A SCN2A SCN3A SCN8A SCN9A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.86 GABRA1 GABRD GABRG2 SCN1A SCN2A SCN3A
2 voltage-gated ion channel activity GO:0005244 9.76 KCNQ2 SCN1A SCN1B SCN2A SCN2B SCN3A
3 cation channel activity GO:0005261 9.72 SCN1A SCN2A SCN3A SCN8A SCN9A
4 chloride channel activity GO:0005254 9.63 GABRA1 GABRD GABRG2
5 extracellular ligand-gated ion channel activity GO:0005230 9.61 GABRA1 GABRD GABRG2
6 GABA-A receptor activity GO:0004890 9.54 GABRA1 GABRD GABRG2
7 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.52 GABRA1 GABRG2
8 GABA-gated chloride ion channel activity GO:0022851 9.51 GABRA1 GABRG2
9 sodium channel activity GO:0005272 9.5 SCN1A SCN1B SCN2A SCN2B SCN3A SCN8A
10 benzodiazepine receptor activity GO:0008503 9.49 GABRA1 GABRG2
11 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.48 GABRA1 GABRG2
12 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.4 SCN1B SCN2B
13 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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