ICEGTC
MCID: DRV001
MIFTS: 69

Dravet Syndrome (ICEGTC) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Dravet Syndrome

Aliases & Descriptions for Dravet Syndrome:

Name: Dravet Syndrome 54 12 50 51 56 66 13 52 14 38
Severe Myoclonic Epilepsy of Infancy 50 51 56 29
Smei 12 50 56 66
Severe Myoclonic Epilepsy in Infancy 12 66
Sme 50 3
Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures 69
Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 66
Epileptic Encephalopathy, Early Infantile, 6 66
Myoclonic Epilepsy, Severe, of Infancy 50
Smei-Borderland More Than One Feature 66
Severe Myoclonus Epilepsy of Infancy 56
Infantile Severe Myoclonic Epilepsy 69
Smei-Borderland-Myoclonic Seizures 66
Dravet Syndrome, Modifier of 54
Smei-Borderland-Spike Wave 66
Borderline Smei 66
Smei-Borderland 66
Smeb-Sw 66
Icegtc 66
Smeb-M 66
Smeb-O 66
Eiee6 66
Smeb 66
Ds 56

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
dravet syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 607208
Disease Ontology 12 DOID:0060171
Orphanet 56 ORPHA33069
ICD10 via Orphanet 34 G40.4
MeSH 42 D004831

Summaries for Dravet Syndrome

OMIM : 54 Dravet syndrome, first described by Dravet (1978), is a clinical term for early-onset epileptic encephalopathy (EIEE)... (607208) more...

MalaCards based summary : Dravet Syndrome, also known as severe myoclonic epilepsy of infancy, is related to gabrg2-related dravet syndrome and scn9a-related dravet syndrome, and has symptoms including ataxia, tremor and muscular hypotonia. An important gene associated with Dravet Syndrome is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. The drugs Stiripentol and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related phenotypes are behavior/neurological and mortality/aging

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

NIH Rare Diseases : 50 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.  last updated: 12/29/2016

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. Hear what others are saying about self-management education for chronic conditions on our CDC YouTube Video Playlist.

NINDS : 51 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. 

UniProtKB/Swiss-Prot : 66 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 : 71 Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a type of epilepsy with... more...

Related Diseases for Dravet Syndrome

Diseases in the Dravet Syndrome family:

Gabrg2-Related Dravet Syndrome Scn9a-Related Dravet Syndrome

Diseases related to Dravet Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 gabrg2-related dravet syndrome 11.8
2 scn9a-related dravet syndrome 11.8
3 scn1a-related intractable childhood epilepsy with generalized tonic-clonic seizures 10.8
4 scn1a-related seizure disorders 10.8
5 epilepsy, generalized, with febrile seizures plus, type 2 10.8
6 epileptic encephalopathy, early infantile, 1 10.8
7 scn1a-related severe myoclonic epilepsy in infancy 10.8
8 epilepsy 10.5
9 scn5a-related brugada syndrome 10.4 SCN1B SCN9A
10 atrial fibrillation, familial, 13 10.3 SCN1A SCN1B
11 fetal and neonatal alloimmune thrombocytopenia 10.3 PCDH19 SCN1A
12 syne1-related autosomal recessive cerebellar ataxia 10.3 SCN1A SCN1B SCN9A
13 deafness, autosomal recessive 65 10.3 GABRG2 SCN1A SCN1B
14 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.3 GABRG2 SCN1A
15 sensory peripheral neuropathy 10.3 PCDH19 SCN1A STXBP1
16 epileptic encephalopathy, early infantile, 11 10.3 GABRG2 SCN1A SCN1B SCN2A
17 encephalopathy 10.3
18 atrial fibrillation and stroke 10.3 CACNA1A SCN1A
19 deafness, autosomal recessive 27 10.3 SCN2A SCN3A
20 gingivitis 10.3 GABRG2 SCN1A SCN1B
21 bone cancer 10.3 GABRA1 GABRG2 SCN1A SCN1B
22 epileptic encephalopathy, early infantile, 15 10.2 PCDH19 SCN1A SCN2A STXBP1
23 syphilitic spinal sclerosis 10.2 SCN1A SCN2A
24 floppy infant syndrome 10.2 PCDH19 SCN1A SCN2A STXBP1
25 microphthalmia, syndromic 2 10.2 GABRA1 SCN2A
26 acro-pectoro-renal dysplasia 10.2 CACNA1A SCN1A
27 hydromyelia 10.2 GABRG2 SCN1A SCN1B SCN2A SCN9A
28 adult brain ependymoma 10.2 SCN1A SCN2A TBC1D24
29 urethral stricture 10.2 CACNA1A GABRA1 GABRG2 SCN1B
30 3-methylcrotonyl-coa carboxylase deficiency 10.2 GABRA1 GABRG2 TBC1D24
31 lymphoproliferative syndrome 10.2 GABRG2 SCN9A TBC1D24
32 aceruloplasminemia 10.2 GABRA1 GABRG2 SCN1A TBC1D24
33 adolescence-adult electroclinical syndrome 10.2 SCN1A SCN2A STXBP1 TBC1D24
34 spondylosis 10.2 GABRG2 SCN1A SCN3A TBC1D24
35 myoclonic epilepsy of infancy 10.1
36 neuronitis 10.1
37 epilepsy, generalized, with febrile seizures plus, type 5 10.1 GABRA1 GABRG2 SCN1A SCN2A TBC1D24
38 autosomal recessive nonsyndromic deafness 10.1 CHD2 GABRA1 GABRG2 SCN1A TBC1D24
39 status epilepticus 10.1
40 febrile seizures 10.1
41 mononeuritis multiplex 10.0 GABRA1 GABRG2 PCDH19 SCN1A SCN1B TBC1D24
42 pulmonary hypertension 10.0 SCN2A STXBP1 TBC1D24
43 marek disease 10.0 SCN1A TBC1D24
44 early onset absence epilepsy 10.0 GABRG2 PCDH19 SCN1A SCN1B SCN2A STXBP1
45 gamma-amino butyric acid metabolism disorder 9.9 GABRA1 GABRG2 SCN1A SCN1B SCN2A SCN3A
46 hepatitis 9.9
47 myoclonus 9.9
48 neuropathy 9.7
49 myoclonic astatic epilepsy 9.7
50 lennox-gastaut syndrome 9.7

Graphical network of the top 20 diseases related to Dravet Syndrome:



Diseases related to Dravet Syndrome

Symptoms & Phenotypes for Dravet Syndrome

Symptoms by clinical synopsis from OMIM:

607208

Clinical features from OMIM:

607208

Human phenotypes related to Dravet Syndrome:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 tremor 56 32 Frequent (79-30%) HP:0001337
3 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
4 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
5 behavioral abnormality 56 32 Frequent (79-30%) HP:0000708
6 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
7 generalized myoclonic seizures 56 32 Very frequent (99-80%) HP:0002123
8 absence seizures 56 32 Very frequent (99-80%) HP:0002121
9 febrile seizures 56 32 Frequent (79-30%) HP:0002373
10 cutaneous photosensitivity 56 32 Very frequent (99-80%) HP:0000992
11 focal seizures with impairment of consciousness or awareness 56 32 Occasional (29-5%) HP:0002384
12 focal clonic seizures 56 32 Very frequent (99-80%) HP:0002266
13 obtundation status 56 32 Frequent (79-30%) HP:0011151
14 seizures 56 Very frequent (99-80%)
15 neurodevelopmental delay 56 Very frequent (99-80%)
16 generalized seizures 56 Very frequent (99-80%)
17 mental deterioration 32 HP:0001268
18 motor delay 32 HP:0001270
19 status epilepticus 32 HP:0002133
20 cerebral atrophy 32 HP:0002059
21 epileptic encephalopathy 32 HP:0200134
22 cortical visual impairment 32 HP:0100704
23 postnatal microcephaly 32 HP:0005484
24 bilateral convulsive seizures 56 Occasional (29-5%)
25 generalized tonic-clonic seizures with focal onset 32 HP:0007334
26 hemiclonic seizures 32 HP:0006813

UMLS symptoms related to Dravet Syndrome:


ataxia

MGI Mouse Phenotypes related to Dravet Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 CACNA1A CHD2 CLSTN1 GABRA1 GABRG2 KIF1B
2 mortality/aging MP:0010768 10.13 GABRA1 GABRG2 KDM2B KIF1B SCN1A SCN1B
3 growth/size/body region MP:0005378 10.06 CACNA1A CHD2 GABRA1 SCN1B SCN2A SCN3A
4 nervous system MP:0003631 9.9 KDM2B KIF1B SCN1A SCN1B SCN2A SCN9A
5 no phenotypic analysis MP:0003012 9.5 CACNA1A CLSTN1 GABRA1 KDM2B SCN1B SCN3A
6 normal MP:0002873 9.23 CACNA1A GABRA1 GABRG2 SCN1A SCN1B SCN3A

Drugs & Therapeutics for Dravet Syndrome

Drugs for Dravet Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Stiripentol Approved Phase 4,Phase 3 49763-96-4
2 Anticonvulsants Phase 4,Phase 3
3
Ethanol Approved Phase 3,Phase 2 64-17-5 702
4
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
5 Pharmaceutical Solutions Phase 3,Phase 2
6
Serotonin Phase 3 50-67-9 5202
7 Serotonin Agents Phase 3
8 Serotonin Uptake Inhibitors Phase 3
9 Neurotransmitter Agents Phase 3
10 Neurotransmitter Uptake Inhibitors Phase 3
11 Strawberry Nutraceutical Phase 3,Phase 2
12
Verapamil Approved Phase 2 52-53-9 2520
13 calcium channel blockers Phase 2
14 Vasodilator Agents Phase 2
15 Anti-Arrhythmia Agents Phase 2
16 Calcium, Dietary Phase 2
17
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078 2978

Interventional clinical trials:

(show all 28)
id Name Status NCT ID Phase
1 Stiripentol in Dravet Syndrome No longer available NCT01533506 Phase 4
2 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3
3 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 Recruiting NCT02926898 Phase 3
4 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
5 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
6 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome Recruiting NCT02682927 Phase 3
7 Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure Disorder Active, not recruiting NCT02318602 Phase 3
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
9 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
10 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome Not yet recruiting NCT02318563 Phase 3
11 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3
12 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3
13 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2
14 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2
15 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome Recruiting NCT02758626 Phase 2
16 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1
17 Cannabinoid Therapy for Pediatric Epilepsy Active, not recruiting NCT02983695 Phase 1
18 Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant Epilepsy Active, not recruiting NCT02286986 Phase 1
19 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
20 Cardiac Arrhythmias in Dravet Syndrome Recruiting NCT02415686
21 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Recruiting NCT02229032
22 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
23 Risk Factors for Sudden Unexplained Death in Epilepsy Recruiting NCT01662453
24 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314
25 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Available NCT01983722
26 Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies Available NCT02239276
27 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Not yet recruiting NCT02910297
28 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Not yet recruiting NCT02815540

Search NIH Clinical Center for Dravet Syndrome

Genetic Tests for Dravet Syndrome

Genetic tests related to Dravet Syndrome:

id Genetic test Affiliating Genes
1 Severe Myoclonic Epilepsy in Infancy 29

Anatomical Context for Dravet Syndrome

MalaCards organs/tissues related to Dravet Syndrome:

39
Brain, Heart, Testes, Skin, Cortex

Publications for Dravet Syndrome

Articles related to Dravet Syndrome:

(show top 50) (show all 291)
id Title Authors Year
1
Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome. ( 28073790 )
2017
2
Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. ( 28284397 )
2017
3
Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases. ( 28330972 )
2017
4
Use of social media to assess the effectiveness of vagal nerve stimulation in Dravet syndrome: A caregiver's perspective. ( 28320117 )
2017
5
Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients. ( 27790834 )
2017
6
Myoclonic Absence Seizures in Dravet Syndrome. ( 28233668 )
2017
7
Movement-activated cortical myoclonus in Dravet syndrome. ( 28126647 )
2017
8
Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. ( 28186331 )
2017
9
Dravet syndrome: a new causative SCN1A mutation? ( 28469861 )
2017
10
Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2(+/Q390X) mice. ( 28505490 )
2017
11
SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. ( 28079314 )
2017
12
Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome. ( 28525652 )
2017
13
Dysarthria and broader motor speech deficits in Dravet syndrome. ( 28148630 )
2017
14
The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research. ( 28431364 )
2017
15
Serotonergic modulation as a pharmacological modality in the treatment of Dravet syndrome. ( 28402511 )
2017
16
Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome. ( 28490751 )
2017
17
Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome. ( 28197552 )
2017
18
Impaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome. ( 28356460 )
2017
19
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. ( 28202706 )
2017
20
Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome. ( 27367160 )
2016
21
Dravet Syndrome: Diagnosis and Long-Term Course. ( 27264139 )
2016
22
Cognitive-behavioral profiles in teenagers with Dravet syndrome. ( 26797655 )
2016
23
Dravet syndrome with favourable cognitive and behavioral development due to a novel SCN1A frameshift mutation. ( 27209029 )
2016
24
PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. ( 27371789 )
2016
25
A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients. ( 27458797 )
2016
26
Altered Glycolysis and Mitochondrial Respiration in a Zebrafish Model of Dravet Syndrome. ( 27066534 )
2016
27
Supraventricular Tachycardia During Status Epilepticus in Dravet Syndrome: A Link Between Brain and Heart? ( 26803335 )
2016
28
Two mild cases of Dravet syndrome with truncating mutation of SCN1A. ( 27544716 )
2016
29
Disorders of early language development in Dravet syndrome. ( 26630186 )
2016
30
Dravet syndrome: Not just epilepsy. ( 27316245 )
2016
31
Treatment of Dravet Syndrome. ( 27264138 )
2016
32
Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study. ( 27389706 )
2016
33
Mortality in Dravet syndrome: A review. ( 27732919 )
2016
34
Outlining a core neuropsychological phenotype for Dravet syndrome. ( 26808204 )
2016
35
Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine. ( 27197941 )
2016
36
Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome. ( 27246997 )
2016
37
Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. ( 28012175 )
2016
38
Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome. ( 27333023 )
2016
39
Helping Families Cope with the Severe Stress of Dravet Syndrome. ( 27264140 )
2016
40
In Reply: Supraventricular Tachycardia During Status Epilepticus in Dravet Syndrome: AA Link Between Brain and Heart? ( 27480955 )
2016
41
Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report. ( 27021235 )
2016
42
Palliative epilepsy surgery in Dravet syndrome-case series and review of the literature. ( 27465677 )
2016
43
Analysis of endocannabinoid signaling elements and related proteins in lymphocytes of patients with Dravet syndrome. ( 27069631 )
2016
44
Prevalence and Characteristics of Vaccination Triggered Seizures in Dravet Syndrome in Hong Kong: A Retrospective Study. ( 26995069 )
2016
45
Crouch Gait in Dravet Syndrome. ( 27909386 )
2016
46
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection. ( 27045673 )
2016
47
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. ( 26841829 )
2016
48
Reflex Seizures Triggered by Diaper Change in Dravet Syndrome. ( 26889571 )
2016
49
Phenotypes of Dravet Syndrome. ( 27617639 )
2016
50
Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A. ( 27653866 )
2016

Variations for Dravet Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Dravet Syndrome:

66 (show top 50) (show all 333)
id 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 Dravet Syndrome:

6 (show top 50) (show all 284)
id 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 SCN1A, 2-BP DEL, 657AG deletion Pathogenic
3 SCN1A NM_001165963.1(SCN1A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs121918624 GRCh37 Chromosome 2, 166909392: 166909392
4 SCN1A NM_006920.4(SCN1A): c.2923C> T (p.Leu975Phe) single nucleotide variant Pathogenic rs121918625 GRCh37 Chromosome 2, 166893031: 166893031
5 SCN1A NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile) single nucleotide variant Pathogenic rs121918629 GRCh37 Chromosome 2, 166848659: 166848659
6 SCN1A NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe) single nucleotide variant Pathogenic rs121918630 GRCh37 Chromosome 2, 166850677: 166850677
7 SCN1A SCN1A, 1-BP DEL, 2528G deletion Pathogenic
8 SCN1A SCN1A, DEL EX21-26 deletion Pathogenic
9 SCN1A SCN1A, 6.5-KB DEL deletion Pathogenic
10 SCN1A SCN1A, 1-BP DEL, 3608A deletion Pathogenic
11 SCN1A NM_006920.4(SCN1A): c.4973C> A (p.Ala1658Glu) single nucleotide variant Pathogenic rs397514458 GRCh37 Chromosome 2, 166848779: 166848779
12 SCN1A NM_006920.4(SCN1A): c.2551C> G (p.Arg851Gly) single nucleotide variant Pathogenic rs397514459 GRCh37 Chromosome 2, 166895938: 166895938
13 SCN1A NM_006920.4(SCN1A): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917957 GRCh37 Chromosome 2, 166904177: 166904177
14 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
15 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh37 Chromosome 2, 166903479: 166903479
16 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh37 Chromosome 2, 166900346: 166900346
17 SCN1A NM_006920.4(SCN1A): c.251A> G (p.Tyr84Cys) single nucleotide variant Pathogenic rs121917964 GRCh37 Chromosome 2, 166929881: 166929881
18 SCN1A NM_006920.4(SCN1A): c.2804G> A (p.Arg935His) single nucleotide variant Pathogenic rs121917971 GRCh37 Chromosome 2, 166894395: 166894395
19 SCN1A NM_006920.4(SCN1A): c.2816G> A (p.Gly939Glu) single nucleotide variant Pathogenic rs121917972 GRCh37 Chromosome 2, 166894383: 166894383
20 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh37 Chromosome 2, 166915162: 166915162
21 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh37 Chromosome 2, 166915161: 166915161
22 SCN1A NM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln) single nucleotide variant Pathogenic rs121917912 GRCh37 Chromosome 2, 166868764: 166868764
23 SCN1A NM_006920.4(SCN1A): c.3970G> A (p.Val1324Met) single nucleotide variant Pathogenic rs121917960 GRCh37 Chromosome 2, 166859263: 166859263
24 SCN1A NM_006920.4(SCN1A): c.4135G> A (p.Val1379Met) single nucleotide variant Pathogenic rs121917986 GRCh37 Chromosome 2, 166859098: 166859098
25 SCN1A NM_006920.4(SCN1A): c.4729T> C (p.Cys1577Arg) single nucleotide variant Likely pathogenic rs121917919 GRCh37 Chromosome 2, 166850746: 166850746
26 SCN1A NM_006920.4(SCN1A): c.4789G> T (p.Asp1597Tyr) single nucleotide variant Pathogenic rs121917915 GRCh37 Chromosome 2, 166850686: 166850686
27 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917995 GRCh37 Chromosome 2, 166848878: 166848878
28 SCN1A NM_006920.4(SCN1A): c.4901G> A (p.Arg1634Gln) single nucleotide variant Pathogenic rs121917976 GRCh37 Chromosome 2, 166848851: 166848851
29 SCN1A NM_006920.4(SCN1A): c.5113T> C (p.Cys1705Arg) single nucleotide variant Pathogenic rs121917926 GRCh37 Chromosome 2, 166848639: 166848639
30 SCN1A NM_006920.4(SCN1A): c.5314G> A (p.Ala1772Thr) single nucleotide variant Pathogenic rs121917980 GRCh37 Chromosome 2, 166848438: 166848438
31 SCN1A NM_006920.4(SCN1A): c.5315C> T (p.Ala1772Val) single nucleotide variant Pathogenic rs121917921 GRCh37 Chromosome 2, 166848437: 166848437
32 SCN1A NM_006920.4(SCN1A): c.5732T> C (p.Ile1911Thr) single nucleotide variant Likely pathogenic rs121917981 GRCh37 Chromosome 2, 166848020: 166848020
33 SCN1A NM_006920.4(SCN1A): c.677C> T (p.Thr226Met) single nucleotide variant Pathogenic rs121917984 GRCh37 Chromosome 2, 166909379: 166909379
34 SCN1A NM_006920.4(SCN1A): c.680T> G (p.Ile227Ser) single nucleotide variant Pathogenic rs121917937 GRCh37 Chromosome 2, 166909376: 166909376
35 SCN1A NM_006920.4(SCN1A): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs121917985 GRCh37 Chromosome 2, 166908478: 166908478
36 SCN1A NM_006920.4(SCN1A): c.838T> C (p.Trp280Arg) single nucleotide variant Pathogenic rs121917938 GRCh37 Chromosome 2, 166908355: 166908355
37 SCN1A NM_006920.4(SCN1A): c.2552G> A (p.Arg851Gln) single nucleotide variant Pathogenic rs121918785 GRCh37 Chromosome 2, 166895937: 166895937
38 SCN1A NM_006920.4(SCN1A): c.269T> C (p.Phe90Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121918733 GRCh37 Chromosome 2, 166915194: 166915194
39 SCN1A NM_006920.4(SCN1A): c.272T> C (p.Ile91Thr) single nucleotide variant Pathogenic rs121918734 GRCh37 Chromosome 2, 166915191: 166915191
40 SCN1A NM_006920.4(SCN1A): c.2758C> T (p.Arg920Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918788 GRCh37 Chromosome 2, 166894441: 166894441
41 SCN1A NM_006920.4(SCN1A): c.2782C> T (p.His928Tyr) single nucleotide variant Pathogenic rs121918736 GRCh37 Chromosome 2, 166894417: 166894417
42 SCN1A NM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys) single nucleotide variant Pathogenic rs121918775 GRCh37 Chromosome 2, 166894396: 166894396
43 SCN1A NM_006920.4(SCN1A): c.2821T> G (p.Trp941Gly) single nucleotide variant Pathogenic rs121918737 GRCh37 Chromosome 2, 166894378: 166894378
44 SCN1A NM_006920.4(SCN1A): c.335C> T (p.Thr112Ile) single nucleotide variant Likely pathogenic rs121918745 GRCh37 Chromosome 2, 166915128: 166915128
45 SCN1A NM_006920.4(SCN1A): c.3596C> A (p.Thr1199Lys) single nucleotide variant Pathogenic rs121918738 GRCh37 Chromosome 2, 166870330: 166870330
46 SCN1A NM_006920.4(SCN1A): c.3745A> C (p.Thr1249Pro) single nucleotide variant Pathogenic rs121918739 GRCh37 Chromosome 2, 166868720: 166868720
47 SCN1A NM_006920.4(SCN1A): c.3827T> C (p.Leu1276Pro) single nucleotide variant Pathogenic rs121918740 GRCh37 Chromosome 2, 166868638: 166868638
48 SCN1A NM_006920.4(SCN1A): c.4265G> A (p.Gly1422Glu) single nucleotide variant Pathogenic rs121918741 GRCh37 Chromosome 2, 166856273: 166856273
49 SCN1A NM_006920.4(SCN1A): c.4724G> A (p.Gly1575Glu) single nucleotide variant Pathogenic rs121918742 GRCh37 Chromosome 2, 166850751: 166850751
50 SCN1A NM_006920.4(SCN1A): c.4909C> T (p.Arg1637Cys) single nucleotide variant Pathogenic rs121918791 GRCh37 Chromosome 2, 166848843: 166848843

Copy number variations for Dravet Syndrome from CNVD:

7
id 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 Dravet Syndrome

Search GEO for disease gene expression data for Dravet Syndrome.

Pathways for Dravet Syndrome

Pathways related to Dravet Syndrome according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 CACNA1A SCN1A SCN1B SCN2A SCN3A SCN9A
2
Show member pathways
12.53 SCN1A SCN1B SCN2A SCN3A SCN9A SLC8A1
3
Show member pathways
12.45 SCN1A SCN1B SCN2A SCN3A SCN9A
4 12.34 SCN1A SCN1B SCN2A SCN9A STXBP1
5
Show member pathways
11.75 ATP6V0C CACNA1A STXBP1
6
Show member pathways
11.75 SCN1A SCN1B SCN2A SCN3A SCN9A
7
Show member pathways
11.64 CACNA1A GABRA1 SCN2A SCN3A SCN9A
8
Show member pathways
11.23 SCN1A SCN1B SCN2A SCN3A SCN9A
9 11.15 CACNA1A GABRA1 GABRG2
10
Show member pathways
10.75 GABRA1 GABRG2
11 10.71 GABRA1 GABRG2
12 10.5 SCN1A SCN1B SCN2A SCN3A SCN9A

GO Terms for Dravet Syndrome

Cellular components related to Dravet Syndrome according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.93 CACNA1A CLSTN1 GABRG2 SCN9A SLC8A1 SPATA13
2 plasma membrane GO:0005886 9.86 ATP6V0C CACNA1A CLSTN1 GABRA1 GABRG2 NKAIN3
3 postsynaptic membrane GO:0045211 9.73 CLSTN1 GABRA1 GABRG2 SLC8A1
4 intercalated disc GO:0014704 9.62 SCN1A SCN1B SCN2A SLC8A1
5 T-tubule GO:0030315 9.56 SCN1A SCN1B SCN2A SLC8A1
6 node of Ranvier GO:0033268 9.54 SCN1A SCN1B SCN2A
7 GABA-A receptor complex GO:1902711 9.48 GABRA1 GABRG2
8 sodium channel complex GO:0034706 9.33 SCN1A SCN1B SCN2A
9 voltage-gated sodium channel complex GO:0001518 9.02 SCN1A SCN1B SCN2A SCN3A SCN9A
10 integral component of membrane GO:0016021 10.31 ATP6V0C CACNA1A CLSTN1 GABRA1 GABRG2 NKAIN3
11 membrane GO:0016020 10.31 ATP6V0C CACNA1A CLSTN1 CYP2C19 GABRA1 GABRG2

Biological processes related to Dravet Syndrome according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.91 ATP6V0C GABRA1 GABRG2 SCN1A SCN2A SCN3A
2 regulation of ion transmembrane transport GO:0034765 9.88 CACNA1A SCN1A SCN1B SCN2A SCN3A SCN9A
3 ion transport GO:0006811 9.85 ATP6V0C CACNA1A GABRA1 GABRG2 SCN1A SCN1B
4 sodium ion transport GO:0006814 9.8 SCN1A SCN1B SCN2A SCN3A SCN9A SLC8A1
5 negative regulation of neuron apoptotic process GO:0043524 9.77 CACNA1A KDM2B STXBP1
6 neuronal action potential GO:0019228 9.73 SCN1A SCN2A SCN3A SCN9A
7 sodium ion transmembrane transport GO:0035725 9.73 SCN1A SCN1B SCN2A SCN3A SCN9A SLC8A1
8 neuromuscular synaptic transmission GO:0007274 9.69 CACNA1A KIF1B STXBP1
9 gamma-aminobutyric acid signaling pathway GO:0007214 9.67 CACNA1A GABRA1 GABRG2
10 regulation of sodium ion transport GO:0002028 9.65 NKAIN3 SCN1B SLC8A1
11 membrane depolarization GO:0051899 9.61 CACNA1A SCN1B
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.59 SCN1A SCN1B
13 behavioral response to pain GO:0048266 9.58 CACNA1A SCN9A
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.58 SCN1B SLC8A1
15 neuron-neuron synaptic transmission GO:0007270 9.57 CACNA1A KIF1B
16 cellular response to histamine GO:0071420 9.56 GABRA1 GABRG2
17 neuronal action potential propagation GO:0019227 9.55 SCN1A SCN1B
18 synaptic transmission, GABAergic GO:0051932 9.54 GABRA1 GABRG2
19 membrane depolarization during action potential GO:0086010 9.35 CACNA1A SCN1A SCN2A SCN3A SCN9A
20 regulation of postsynaptic membrane potential GO:0060078 9.17 GABRA1 SCN1A SCN1B SCN2A SCN3A SCN9A
21 transport GO:0006810 10.2 ATP6V0C CACNA1A GABRA1 GABRG2 SCN1A SCN1B
22 transmembrane transport GO:0055085 10 CACNA1A SCN1A SCN2A SCN3A SCN9A SLC8A1

Molecular functions related to Dravet Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.73 CACNA1A SCN1A SCN1B SCN2A SCN3A SCN9A
2 ion channel activity GO:0005216 9.63 CACNA1A GABRA1 SCN1A SCN2A SCN3A SCN9A
3 sodium channel activity GO:0005272 9.35 SCN1A SCN1B SCN2A SCN3A SCN9A
4 GABA-A receptor activity GO:0004890 9.32 GABRA1 GABRG2
5 voltage-gated sodium channel activity GO:0005248 9.02 SCN1A SCN1B SCN2A SCN3A SCN9A

Sources for Dravet Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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