DRVT
MCID: DRV001
MIFTS: 69

Dravet Syndrome (DRVT)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dravet Syndrome

MalaCards integrated aliases for Dravet Syndrome:

Name: Dravet Syndrome 57 12 74 20 53 58 73 36 13 54 15 37
Severe Myoclonic Epilepsy of Infancy 57 12 20 53 58
Smei 57 20 58 73
Severe Myoclonic Epilepsy in Infancy 73 29 6
Developmental and Epileptic Encephalopathy 6 57 12
Epileptic Encephalopathy, Early Infantile, 6 57 73
Early Infantile Epileptic Encephalopathy 6 12 29
Eiee6 57 73
Dee6 57 12
Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 73
Epileptic Encephalopathy, Early Infantile, 6; Eiee6 57
Developmental and Epileptic Encephalopathy 6; Dee6 57
Encephalopathy, Epileptic, Early Infantile, Type 6 39
Severe Myoclonic Epilepsy of Infancy; Smei 57
Myoclonic Epilepsy, Severe, of Infancy 20
Smei-Borderland More Than One Feature 73
Severe Myoclonus Epilepsy of Infancy 58
Smei-Borderland-Myoclonic Seizures 73
Smei-Borderland-Spike Wave 73
Borderline Smei 73
Smei-Borderland 73
Smeb-Sw 73
Smeb-M 73
Smeb-O 73
Icegtc 73
Drvt 57
Smeb 73
Sme 20

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
Miscellaneous:
phenotypic variability
onset in first year of life
eeg may be normal at first
psychomotor delay usually becomes apparent around 2 years of age
psychomotor delay may be apparent at onset of seizures
may be induced by fever or hot bath
seizures are refractory to medical therapy
de novo mutation (in most cases)

Inheritance:
autosomal dominant


HPO:

31
dravet syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Dravet Syndrome

NINDS : 53 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 : Dravet Syndrome, also known as severe myoclonic epilepsy of infancy, is related to genetic epilepsy with febrile seizures plus and febrile seizures, and has symptoms including ataxia, myoclonic seizures and absence seizures. An important gene associated with Dravet Syndrome is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Dopaminergic synapse and G-Beta Gamma Signaling. The drugs Strawberry and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are developmental regression and progressive gait ataxia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has material basis in heterozygous mutation in the SCN1A gene on chromosome 2q24.

GARD : 20 Dravet syndrome is the most severe of a group of conditions known as SCN1A-related seizure disorders. Symptoms include seizures which first occur in infancy that are often triggered by high temperatures (febrile seizures). In childhood, many types of seizures may occur and they may increase in frequency. Seizures may be difficult to treat. Other symptoms include loss of motor skills, intellectual disability, speech impairment, and difficulty with movement. Most cases of Dravet syndrome occur when the SCN1A gene is not working correctly. It can be inherited in an autosomal dominant pattern, but most people with Dravet syndrome do not have a family history of the condition. Diagnosis is based on a clinical exam, medical history, and the results of genetic testing. The main goal of treatment is to reduce the number and length of seizures.

OMIM® : 57 Dravet syndrome, first described by Dravet (1978), is a clinical term for a severe neurologic disorder characterized by the onset of seizures in the first year of life after normal early development. Affected individuals usually present with generalized tonic, clonic, and tonic-clonic seizures that may initially be induced by fever and are usually refractory to treatment. Later, patients tend to 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 and other abnormalities. Psychomotor development stagnates around the second year of life, and affected individuals show subsequent mental decline, behavioral problems, and learning disabilities (summary by Dravet et al., 1992; Sugawara et al., 2002; Harkin et al., 2007; Shbarou and Mikati, 2016). 'Severe myoclonic epilepsy of infancy' (SMEI) and 'migrating partial seizures of infancy' (MPSI) are other clinical manifestations of Dravet syndrome (summary by Ohmori et al., 2002; Carranza Rojo et al., 2011; Dravet et al., 2011). Although most cases of Dravet syndrome are caused by mutation in the SCN1A gene, there are other developmental and epileptic encephalopathies (DEEs) with clinical features similar to Dravet syndrome that are caused by mutations in other genes (summary by Steel et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350. (607208) (Updated 05-Mar-2021)

KEGG : 36 The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. Patients typically present with febrile hemiclonic or generalised tonic-clonic status epilepticus, followed by the development of other seizure types including myoclonic, focal, absence and atonic seizures between 1-4 years. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years. Development is normal in the first year of life with subsequent developmental slowing and sometimes regression. Approximately 80% of patients have point mutations or small insertions or deletions in the SCN1A gene.

UniProtKB/Swiss-Prot : 73 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 : 74 Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal... more...

Related Diseases for Dravet Syndrome

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

(show top 50) (show all 202)
# Related Disease Score Top Affiliating Genes
1 genetic epilepsy with febrile seizures plus 33.0 SCN9A SCN2A SCN1A
2 febrile seizures 32.7 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
3 seizure disorder 32.2 STXBP1 SCN2A SCN1B SCN1A PCDH19 GABRG2
4 encephalopathy 32.2 STXBP1 SCN2A SCN1A PCDH19 CDKL5 CACNA1A
5 epilepsy 32.0 STXBP1 SNX27 SCN9A SCN3A SCN2A SCN1B
6 early myoclonic encephalopathy 32.0 STXBP1 SCN9A SCN3A SCN2A SCN1B SCN1A
7 status epilepticus 32.0 SCN1A PCDH19 CACNA1A
8 myoclonic epilepsy of infancy 31.7 SCN1A GABRG2
9 alacrima, achalasia, and mental retardation syndrome 31.7 STXBP1 SCN2A SCN1A GABRG2 GABRB3 GABRA1
10 scn1a seizure disorders 31.7 SCN1A LOC102724058
11 generalized epilepsy with febrile seizures plus 31.6 STXBP1 SCN9A SCN3A SCN2A SCN1B SCN1A-AS1
12 lennox-gastaut syndrome 31.5 STXBP1 SCN9A SCN3A SCN2A SCN1B SCN1A
13 epilepsy with generalized tonic-clonic seizures 31.3 SCN2A SCN1B SCN1A GABRG2 GABRB3 GABRA1
14 autism 31.1 STXBP1 SCN3A SCN2A SCN1A PCDH19 GABRG2
15 generalized epilepsy with febrile seizures plus, type 2 31.1 SCN9A SCN1B SCN1A LOC102724058 GABRG2
16 focal epilepsy 31.0 SCN3A SCN2A SCN1A GABRG2 CDKL5
17 epilepsy, idiopathic generalized 30.9 STXBP1 SCN9A SCN3A SCN2A SCN1B SCN1A
18 migraine with or without aura 1 30.9 SCN9A SCN3A SCN2A SCN1A CACNA1A
19 early infantile epileptic encephalopathy 30.8 STXBP1 SH2D3C SCN9A SCN3A SCN2A SCN1B
20 photosensitive epilepsy 30.7 STXBP1 SCN2A SCN1B SCN1A PCDH19 GABRG2
21 benign neonatal seizures 30.7 STXBP1 SCN2A SCN1B SCN1A PCDH19 GABRA1
22 developmental and epileptic encephalopathy 9 30.7 STXBP1 SCN1A PCDH19 CDKL5
23 generalized epilepsy with febrile seizures plus, type 7 30.7 SCN9A SCN1B SCN1A-AS1 SCN1A GABRG2
24 childhood absence epilepsy 30.7 STXBP1 SCN3A SCN2A SCN1B SCN1A PCDH19
25 electroclinical syndrome 30.7 STXBP1 SCN9A SCN3A SCN2A SCN1B SCN1A
26 brugada syndrome 30.6 SCN9A SCN3A SCN2A SCN1B SCN1A
27 west syndrome 30.6 STXBP1 SCN3A SCN2A SCN1B SCN1A PCDH19
28 pervasive developmental disorder 30.6 SCN2A SCN1A GABRB3 CDKL5
29 familial hemiplegic migraine 30.6 SCN1A LOC102724058 CACNA1A
30 stxbp1 encephalopathy 30.6 STXBP1 SH2D3C LRSAM1 LMX1B GARNL3 CFAP157
31 developmental and epileptic encephalopathy 4 30.5 STXBP1 SH2D3C LRSAM1 LMX1B GARNL3 CFAP157
32 developmental and epileptic encephalopathy 52 11.2
33 scn1a-related seizure disorders 11.0
34 developmental and epileptic encephalopathy 19 11.0
35 adolescence-adult electroclinical syndrome 10.6 SCN2A SCN1B SCN1A PCDH19 GABRG2 GABRB3
36 febrile seizures, familial, 5 10.6 SCN2A SCN1B SCN1A GABRG2
37 landau-kleffner syndrome 10.6 STXBP1 SCN2A SCN1A PCDH19 GABRG2
38 early onset absence epilepsy 10.6 SCN2A SCN1B SCN1A GABRG2 GABRB3 GABRA1
39 febrile seizures, familial, 2 10.6 SCN2A SCN1B SCN1A GABRG2
40 epilepsy, familial temporal lobe, 5 10.6 SCN9A SCN1B SCN1A GABRG2
41 benign familial neonatal epilepsy 10.6 STXBP1 SCN2A SCN1B SCN1A PCDH19 GABRG2
42 autosomal dominant nocturnal frontal lobe epilepsy 10.6 STXBP1 SCN2A SCN1B SCN1A PCDH19 GABRG2
43 migraine, familial hemiplegic, 3 10.6 SCN9A SCN3A SCN2A SCN1A CACNA1A
44 trigeminal nerve disease 10.6 SCN9A SCN3A SCN2A SCN1A
45 juvenile absence epilepsy 10.6 SCN1A GABRG2 GABRB3 GABRA1
46 febrile seizures, familial, 6 10.6 SCN1B SCN1A GABRG2
47 paramyotonia congenita of von eulenburg 10.6 SCN9A SCN2A SCN1B SCN1A
48 developmental and epileptic encephalopathy 13 10.6 SCN2A SCN1B SCN1A
49 reflex epilepsy 10.6 SCN2A SCN1A GABRG2
50 febrile seizures, familial, 8 10.6 SCN1B SCN1A GABRG2

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



Diseases related to Dravet Syndrome

Symptoms & Phenotypes for Dravet Syndrome

Human phenotypes related to Dravet Syndrome:

58 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
2 progressive gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007240
3 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
4 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
5 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
6 focal impaired awareness seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002384
7 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
8 cogwheel rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002396
9 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
10 multifocal epileptiform discharges 58 31 frequent (33%) Frequent (79-30%) HP:0010841
11 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
12 atypical absence seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007270
13 facial tics 58 31 frequent (33%) Frequent (79-30%) HP:0011468
14 obsessive-compulsive trait 58 31 frequent (33%) Frequent (79-30%) HP:0008770
15 limited neck range of motion 58 31 frequent (33%) Frequent (79-30%) HP:0000466
16 focal aware seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002349
17 epilepsia partialis continua 58 31 frequent (33%) Frequent (79-30%) HP:0012847
18 photosensitive myoclonic seizure 31 frequent (33%) HP:0001327
19 photosensitive tonic-clonic seizure 31 frequent (33%) HP:0007207
20 focal hemiclonic seizure 31 frequent (33%) HP:0006813
21 generalized clonic seizure 31 frequent (33%) HP:0011169
22 complex febrile seizure 31 frequent (33%) HP:0011172
23 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
24 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
25 tibial torsion 58 31 occasional (7.5%) Occasional (29-5%) HP:0100694
26 impulsivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100710
27 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
28 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
29 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
30 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
31 incoordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0002311
32 pes valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008081
33 global brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002283
34 action tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002345
35 limited knee extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0003066
36 eeg with generalized epileptiform discharges 58 31 occasional (7.5%) Occasional (29-5%) HP:0011198
37 dysgenesis of the hippocampus 58 31 occasional (7.5%) Occasional (29-5%) HP:0025101
38 cyanotic episode 58 31 occasional (7.5%) Occasional (29-5%) HP:0200048
39 status epilepticus without prominent motor symptoms 31 occasional (7.5%) HP:0031475
40 generalized tonic seizure 31 very rare (1%) HP:0010818
41 abnormal pyramidal sign 31 HP:0007256
42 ataxia 31 HP:0001251
43 global developmental delay 31 HP:0001263
44 generalized myoclonic seizures 58 Frequent (79-30%)
45 motor delay 31 HP:0001270
46 mental deterioration 31 HP:0001268
47 rigidity 58 Frequent (79-30%)
48 status epilepticus 31 HP:0002133
49 cerebral atrophy 31 HP:0002059
50 postnatal microcephaly 31 HP:0005484

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
ataxia
status epilepticus
myoclonic seizures
absence seizures
delayed psychomotor development
more
Head And Neck Eyes:
cortical visual impairment (in severe cases)

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

Clinical features from OMIM®:

607208 (Updated 05-Mar-2021)

UMLS symptoms related to Dravet Syndrome:


ataxia, myoclonic seizures, absence seizures

MGI Mouse Phenotypes related to Dravet Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 CACNA1A CDKL5 GABRA1 GABRB3 GABRG2 LMX1B
2 mortality/aging MP:0010768 10.07 CACNA1A GABRA1 GABRB3 GABRG2 LMX1B SCN1A
3 nervous system MP:0003631 10 CACNA1A CDKL5 GABRA1 GABRB3 GABRG2 LMX1B
4 no phenotypic analysis MP:0003012 9.61 CACNA1A CDKL5 GABRA1 GABRB3 LMX1B SCN1B
5 normal MP:0002873 9.32 CACNA1A GABRA1 GABRB3 GABRG2 LMX1B LRSAM1

Drugs & Therapeutics for Dravet Syndrome

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Strawberry Approved Phase 3
2
Ethanol Approved Phase 3 64-17-5 702
3
Stiripentol Approved Phase 3 49763-96-4
4
tannic acid Approved Phase 3 1401-55-4
5
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
6 Serotonin Uptake Inhibitors Phase 3
7
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
8
Verapamil Approved Phase 2 52-53-9 2520
9 Hormones Phase 2
10 Calcium, Dietary Phase 2
11 Vasodilator Agents Phase 2
12 calcium channel blockers Phase 2
13 Anti-Arrhythmia Agents Phase 2
14
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 A Multicenter, 2-Cohort Trial to First Assess the Pharmacokinetic and Safety Profile of a Single Dose of ZX008 (Fenfluramine Hydrochloride) Oral Solution When Added to Standard of Care , Followed by a Randomized, Double-blind, Placebo-controlled Parallel Group Evaluation of the Efficacy, Safety, and Tolerability of ZX008 as Adjunctive Antiepileptic Therapy to Stiripentol Treatment in Children 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
2 A Double Blind, Placebo Controlled Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
3 A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome. Completed NCT02224703 Phase 3 GWP42003-P;Placebo Control
4 A Prospective Multi-Center Single-Arm Clinical Trial on Cognitive Effect of Cannabidiol (CBD-OS®) on Dravet Syndrome and Lennox-Gastaut Syndrome Recruiting NCT04611438 Phase 3 Cannabidiol
5 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution 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
6 A Multicenter, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group Study With Open-Label Extension Phase of Lorcaserin as Adjunctive Treatment in Subjects With Dravet Syndrome Recruiting NCT04572243 Phase 3 Placebo;Lorcaserin
7 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
8 An Exploratory, Pilot Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome: A Sub-study to the ZX008-1503 Open-Label Extension Trial Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
9 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy for Seizures in Patients With Rare Seizure Disorders Such as Epileptic Encephalopathies Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
10 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
11 Multi-site, Prospective, Open-label, Long-term, Flexible Dose, Interventional Study to Evaluate the Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
12 Multi-site, Prospective, Randomised, Double-blind, Placebo-controlled, Parallel-group, Interventional Study to Evaluate the Efficacy, Safety, and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
13 A Multicenter, Randomized, Double-blind, Placebo- Controlled, Interventional Study to Assess the Safety and Efficacy of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
14 Verapamil as Adjunctive Seizure Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
15 A Double Blind, Placebo-controlled, Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome 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 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
17 An Open-Label Study to Investigate the Safety and Pharmacokinetics of Single Ascending Doses of Antisense Oligonucleotide STK-001 in Children and Adolescents With Dravet Syndrome Recruiting NCT04442295 Phase 1, Phase 2 STK-001
18 A 20-Week Multicenter, Randomized, Double-Blind, Placebo- Controlled, Proof of Concept Trial of EPX-100 (Clemizole Hydrochloride) as Adjunctive Therapy in Children With Dravet Syndrome Recruiting NCT04462770 Phase 2 EPX-100 (Clemizole HCl);Placebo
19 An Open-Label Trial to Assess the Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Combination With Cannabidiol, as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome or Lennox-Gastaut Syndrome Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 0.2 and 0.8 mg/kg/day
20 A Phase 2 Randomized, Double-Masked Placebo-Controlled Crossover Safety and Tolerability Study of Ataluren for Drug Resistant Epilepsy in Patients With Nonsense Mutation CDKL5 or Dravet Syndrome Active, not recruiting NCT02758626 Phase 2 ataluren;Placebo
21 An Open-Label Extension Study for Patients With Dravet Syndrome Who Previously Participated in Studies of STK-001 Enrolling by invitation NCT04740476 Phase 2 STK-001
22 A Phase I, Placebo-Controlled, Double-Blind, 2-Period Study to Assess Safety and Pharmacokinetics of Escalating Single and Multiple Oral Doses of EPX-100 in Fasting Healthy Subjects and Following a High-Fat Meal Completed NCT04069689 Phase 1 EPX-100 (Clemizole Hydrochloride);Placebos
23 Efficacy of Epidiolex in Patients With Electrical Status Epilepticus of Sleep (ESES). Not yet recruiting NCT04721691 Phase 1 Epidiolex 100 mg/mL Oral Solution
24 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
25 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
26 Cardiac Arrhythmias in Dravet Syndrome: an Observational, International, Multicentre Study Completed NCT02415686
27 ENVISION: Natural History Study of Infants and Children With SCN1A-positive Dravet Syndrome Recruiting NCT04537832
28 Transcranial Magnetic Stimulation to Measure Cortical Excitability in Dravet Syndrome Recruiting NCT04614506
29 Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome Recruiting NCT02896608
30 Treatment of Gait Disorders in Children With Dravet Syndrome Active, not recruiting NCT03857451
31 Treatment of Dravet Syndrome With Fenfluramine (Expanded Access Protocol) Available NCT04437004 Fenfluramine
32 ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan Available NCT03780127 Fenfluramine Hydrochloride
33 Extended Access Program and Retrospective Chart Review for Lorcaserin in Dravet Syndrome and Other Refractory Epilepsies Available NCT04457687 Lorcaserin
34 Compassionate Use of Stiripentol in Dravet Syndrome No longer available NCT01835314 Stiripentol
35 Compassionate Use of Stiripentol in Intractable Epilepsy Due to Dravet Syndrome No longer available NCT01533506 stiripentol
36 Expanded Access Use of Stiripentol in Participants With Dravet Syndrome or Epileptic Encephalopathies Associated With Sodium Channel Mutations No longer available NCT02239276 Stiripentol
37 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297

Search NIH Clinical Center for Dravet Syndrome

Genetic Tests for Dravet Syndrome

Genetic tests related to Dravet Syndrome:

# Genetic test Affiliating Genes
1 Severe Myoclonic Epilepsy in Infancy 29 SCN1A
2 Early Infantile Epileptic Encephalopathy 6 29 SCN1A

Anatomical Context for Dravet Syndrome

MalaCards organs/tissues related to Dravet Syndrome:

40
Brain, Heart, Skin, Cortex, Skeletal Muscle, Subthalamic Nucleus, Dorsal Root Ganglion

Publications for Dravet Syndrome

Articles related to Dravet Syndrome:

(show top 50) (show all 1100)
# Title Authors PMID Year
1
De novo SCN1A mutations in migrating partial seizures of infancy. 61 6 57
21753172 2011
2
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. 57 6 61
17000989 2006
3
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 57 6 61
11359211 2001
4
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. 6 57
21555645 2011
5
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 57 6
12566275 2003
6
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 61 54 57
20522430 2010
7
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 57 61 54
19589774 2010
8
Parental SCN1A mutation mosaicism in familial Dravet syndrome. 61 54 57
19673951 2009
9
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 57 54 61
19763161 2009
10
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 61 54 57
18930999 2009
11
Dravet syndrome and its mimics: Beyond SCN1A. 57 61
28880996 2017
12
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies. 61 57
27544470 2016
13
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 6 61
24623842 2014
14
Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later. 57 61
21463271 2011
15
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene. 57 61
20484682 2010
16
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 61 57
20431604 2010
17
Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes. 57 61
19764027 2009
18
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. 6 61
18680191 2008
19
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. 57 61
17881658 2007
20
The spectrum of SCN1A-related infantile epileptic encephalopathies. 57 61
17347258 2007
21
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. 61 57
17190949 2006
22
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. 6 61
16505326 2006
23
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 61 57
12821740 2003
24
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. 57 61
11748509 2002
25
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? 61 57
11488881 2001
26
Epidemiology of severe myoclonic epilepsy of infancy. 57 61
1695145 1990
27
Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy. 61 57
2111767 1990
28
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro. 6
32047208 2020
29
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. 57
22914087 2012
30
Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 57
20879882 2010
31
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 57
19522081 2009
32
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 6
19557857 2009
33
Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. 57
19234123 2009
34
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 6
18469812 2008
35
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. 57
16921370 2006
36
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 57
12083760 2002
37
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. 57
11940708 2002
38
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. 57
11422340 2001
39
Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 57
9810557 1998
40
Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy. 57
2111766 1990
41
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 57
2502382 1989
42
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 61 54
20351042 2010
43
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. 61 54
20447868 2010
44
Mutations in GABAA receptor subunits associated with genetic epilepsies. 54 61
20308251 2010
45
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. 61 54
19783390 2009
46
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 54 61
19734009 2009
47
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 61 54
19782004 2009
48
Dravet syndrome: from electroclinical characteristics to molecular biology. 54 61
19702726 2009
49
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 61 54
19666879 2009
50
A functional null mutation of SCN1B in a patient with Dravet syndrome. 54 61
19710327 2009

Variations for Dravet Syndrome

ClinVar genetic disease variations for Dravet Syndrome:

6 (show top 50) (show all 789)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STXBP1 NM_003165.4(STXBP1):c.1029+1G>C SNV Pathogenic 212326 rs727504173 9:130434396-130434396 9:127672117-127672117
2 STXBP1 NM_003165.4(STXBP1):c.902+1G>A SNV Pathogenic 375214 rs886041978 9:130430467-130430467 9:127668188-127668188
3 STXBP1 NM_003165.4(STXBP1):c.1006C>T (p.Gln336Ter) SNV Pathogenic 375464 rs1057519501 9:130434372-130434372 9:127672093-127672093
4 STXBP1 NM_001032221.4(STXBP1):c.87+2T>C SNV Pathogenic 436894 rs1554775960 9:130413933-130413933 9:127651654-127651654
5 STXBP1 NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp) SNV Pathogenic 6726 rs121918317 9:130444768-130444768 9:127682489-127682489
6 STXBP1 NM_003165.4(STXBP1):c.539G>A (p.Cys180Tyr) SNV Pathogenic 6727 rs121918318 9:130425593-130425593 9:127663314-127663314
7 STXBP1 NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg) SNV Pathogenic 6728 rs121918319 9:130439001-130439001 9:127676722-127676722
8 STXBP1 NM_003165.4(STXBP1):c.251T>A (p.Val84Asp) SNV Pathogenic 6729 rs121918320 9:130422313-130422313 9:127660034-127660034
9 STXBP1 NM_003165.4(STXBP1):c.169+1G>A SNV Pathogenic 6731 rs587776641 9:130416076-130416076 9:127653797-127653797
10 STXBP1 NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) SNV Pathogenic 127076 rs587777310 9:130430411-130430411 9:127668132-127668132
11 STXBP1 NM_001032221.4(STXBP1):c.754_755del (p.Met252fs) Deletion Pathogenic 160071 rs587784454 9:130428534-130428535 9:127666255-127666256
12 STXBP1 NM_003165.4(STXBP1):c.692dup (p.Ile232fs) Duplication Pathogenic 560298 rs1564351388 9:130428472-130428473 9:127666193-127666194
13 STXBP1 NM_003165.4(STXBP1):c.578+1G>A SNV Pathogenic 561119 rs796053357 9:130425633-130425633 9:127663354-127663354
14 STXBP1 NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) SNV Pathogenic 561120 rs1564346538 9:130413923-130413923 9:127651644-127651644
15 STXBP1 NM_001032221.6(STXBP1):c.1111-2A>G SNV Pathogenic 461286 rs1554778417 9:130438081-130438081 9:127675802-127675802
16 STXBP1 NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter) SNV Pathogenic 590289 rs1564357089 9:130444694-130444694 9:127682415-127682415
17 LRSAM1 Deletion Pathogenic 598748 9:130248090-130388197
18 STXBP1 NM_001032221.6(STXBP1):c.1492dup (p.His498fs) Duplication Pathogenic 620007 rs1564356269 9:130442465-130442466 9:127680186-127680187
19 SH2D3C GRCh37/hg19 9q34.11(chr9:130335766-130517907) copy number loss Pathogenic 625638 9:130335766-130517907
20 LMX1B GRCh37/hg19 9q33.3(chr9:129414011-129460757) copy number loss Pathogenic 625639 9:129414011-129460757
21 STXBP1 NM_001032221.6(STXBP1):c.430-1G>A SNV Pathogenic 802511 rs796053354 9:130425483-130425483 9:127663204-127663204
22 STXBP1 NM_001032221.6(STXBP1):c.579-1G>A SNV Pathogenic 802512 rs1588317190 9:130427525-130427525 9:127665246-127665246
23 STXBP1 NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) Deletion Pathogenic 802514 rs1588339898 9:130438208-130438208 9:127675929-127675929
24 STXBP1 NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter) SNV Pathogenic 807506 rs1588341629 9:130438934-130438934 9:127676655-127676655
25 STXBP1 NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) SNV Pathogenic 812664 rs1564355614 9:130440777-130440777 9:127678498-127678498
26 CDKL5 NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=) SNV Pathogenic 813743 rs1602286005 X:18622143-18622143 X:18604023-18604023
27 STXBP1 NM_001032221.6(STXBP1):c.246+2_325+14del Deletion Pathogenic 827636 9:130420732-130422401 9:127658453-127660122
28 STXBP1 NM_003165.4(STXBP1):c.326-1G>T SNV Pathogenic 461293 rs1554776948 9:130423380-130423380 9:127661101-127661101
29 STXBP1 NM_001032221.6(STXBP1):c.1030del (p.Tyr344fs) Deletion Pathogenic 812177 9:130435460-130435460 9:127673181-127673181
30 STXBP1 NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter) SNV Pathogenic 870202 9:130444725-130444725 9:127682446-127682446
31 STXBP1 NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter) SNV Pathogenic 802508 rs1461664423 9:130420725-130420725 9:127658446-127658446
32 STXBP1 NM_003165.4(STXBP1):c.1427C>G (p.Ser476Ter) SNV Pathogenic 620472 rs1564355614 9:130440777-130440777 9:127678498-127678498
33 STXBP1 NM_001032221.6(STXBP1):c.663+1G>A SNV Pathogenic 973279 9:130427611-130427611 9:127665332-127665332
34 CFAP157 GRCh37/hg19 9q34.11(chr9:130435492-130485618)x1 copy number loss Pathogenic 932281 9:130435492-130485618
35 STXBP1 NM_001032221.6(STXBP1):c.1029+1G>A SNV Pathogenic 870915 9:130434396-130434396 9:127672117-127672117
36 STXBP1 NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs) Deletion Pathogenic 976064 9:130423428-130423429 9:127661149-127661150
37 STXBP1 NM_003165.4(STXBP1):c.1381_1390del (p.Lys461fs) Deletion Pathogenic 449337 rs1554778657 9:130440723-130440732 9:127678444-127678453
38 STXBP1 NM_003165.4(STXBP1):c.1652G>A (p.Arg551His) SNV Pathogenic 566474 rs796053374 9:130444789-130444789 9:127682510-127682510
39 SCN1A NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) SNV Pathogenic 12894 rs121918629 2:166848659-166848659 2:165992149-165992149
40 SCN1A NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) SNV Pathogenic 12895 rs121918630 2:166850677-166850677 2:165994167-165994167
41 SCN1A NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu) SNV Pathogenic 29883 rs397514458 2:166848779-166848779 2:165992269-165992269
42 SCN1A NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly) SNV Pathogenic 29884 rs397514459 2:166895938-166895938 2:166039428-166039428
43 SCN1A NM_001165963.4(SCN1A):c.655_656AG[1] (p.Arg219fs) Microsatellite Pathogenic 12888 rs1574272192 2:166909398-166909399 2:166052888-166052889
44 SCN1A NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) SNV Pathogenic 12890 rs121918625 2:166893031-166893031 2:166036521-166036521
45 SCN1A SCN1A, 1-BP DEL, 2528G Deletion Pathogenic 12898
46 SCN1A SCN1A, EX21-26DEL Deletion Pathogenic 12899
47 SCN1A SCN1A, 6.5-KB DEL Deletion Pathogenic 12900
48 SCN1A NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs) Deletion Pathogenic 12901 rs1574061044 2:166870350-166870350 2:166013840-166013840
49 SCN1A NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn) SNV Pathogenic 68509 rs121917967 2:166903420-166903420 2:166046910-166046910
50 STXBP1 NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys) SNV Pathogenic 982594 9:130444767-130444767 9:127682488-127682488

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

73 (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

Copy number variations for Dravet Syndrome from CNVD:

7
# CNVD ID Chromosome 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 KEGG:

36
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 SCN9A SCN3A SCN2A SCN1B SCN1A CACNA1A
2
Show member pathways
12.8 STXBP1 GABRG2 GABRB3 GABRA1 CACNA1A
3
Show member pathways
12.62 SCN9A SCN3A SCN2A SCN1B SCN1A
4
Show member pathways
12.45 SCN9A SCN3A SCN2A SCN1B SCN1A
5 12.36 STXBP1 SCN9A SCN2A SCN1B SCN1A
6
Show member pathways
12.34 GABRG2 GABRB3 GABRA1 CACNA1A
7
Show member pathways
11.85 GABRG2 GABRB3 GABRA1
8
Show member pathways
11.82 SCN9A SCN3A SCN2A GABRA1 CACNA1A
9
Show member pathways
11.75 SCN9A SCN3A SCN2A SCN1B SCN1A
10
Show member pathways
11.23 SCN9A SCN3A SCN2A SCN1B SCN1A
11
Show member pathways
11.2 GABRG2 GABRB3 GABRA1
12 11.06 GABRG2 GABRB3 GABRA1 CACNA1A
13
Show member pathways
10.77 GABRG2 GABRA1
14 10.77 GABRG2 GABRB3 GABRA1
15 10.5 SCN9A SCN3A SCN2A SCN1B SCN1A

GO Terms for Dravet Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.29 STXBP1 SH2D3C SCN9A SCN3A SCN2A SCN1B
2 integral component of plasma membrane GO:0005887 10.04 SCN9A SCN2A SCN1B PCDH19 GABRG2 GABRB3
3 cell projection GO:0042995 10 SH2D3C SCN9A SCN1B GABRG2 CFAP157 CDKL5
4 postsynapse GO:0098794 9.69 STXBP1 GABRG2 GABRA1
5 chloride channel complex GO:0034707 9.61 GABRG2 GABRB3 GABRA1
6 intercalated disc GO:0014704 9.58 SCN2A SCN1B SCN1A
7 axon GO:0030424 9.56 STXBP1 SH2D3C SCN9A SCN3A SCN2A SCN1B
8 T-tubule GO:0030315 9.54 SCN2A SCN1B SCN1A
9 GABA-A receptor complex GO:1902711 9.5 GABRG2 GABRB3 GABRA1
10 node of Ranvier GO:0033268 9.43 SCN2A SCN1B SCN1A
11 sodium channel complex GO:0034706 9.33 SCN2A SCN1B SCN1A
12 voltage-gated sodium channel complex GO:0001518 9.02 SCN9A SCN3A SCN2A SCN1B SCN1A

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.99 SCN9A SCN3A SCN2A SCN1A CACNA1A
2 chemical synaptic transmission GO:0007268 9.86 GABRG2 GABRB3 GABRA1 CACNA1A
3 sodium ion transport GO:0006814 9.85 SCN9A SCN3A SCN2A SCN1B SCN1A
4 regulation of membrane potential GO:0042391 9.81 SCN1A GABRG2 GABRB3 GABRA1
5 sodium ion transmembrane transport GO:0035725 9.8 SCN9A SCN3A SCN2A SCN1B SCN1A
6 chloride transmembrane transport GO:1902476 9.74 GABRG2 GABRB3 GABRA1
7 regulation of ion transmembrane transport GO:0034765 9.73 SCN9A SCN3A SCN2A SCN1B SCN1A CACNA1A
8 chloride transport GO:0006821 9.72 GABRG2 GABRB3 GABRA1
9 cation transmembrane transport GO:0098655 9.72 SCN9A SCN3A SCN2A SCN1A CACNA1A
10 nervous system process GO:0050877 9.7 GABRG2 GABRB3 GABRA1
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.67 GABRG2 GABRB3 GABRA1
12 neuronal action potential GO:0019228 9.67 SCN9A SCN3A SCN2A SCN1A
13 inhibitory synapse assembly GO:1904862 9.65 GABRG2 GABRB3 GABRA1
14 cellular response to histamine GO:0071420 9.61 GABRG2 GABRB3 GABRA1
15 ion transport GO:0006811 9.61 SCN9A SCN3A SCN2A SCN1B SCN1A GABRG2
16 membrane depolarization GO:0051899 9.6 SCN1B CACNA1A
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 SCN1B SCN1A
18 synaptic transmission, GABAergic GO:0051932 9.58 GABRG2 GABRA1
19 neuronal action potential propagation GO:0019227 9.54 SCN1B SCN1A
20 membrane depolarization during action potential GO:0086010 9.46 SCN9A SCN3A SCN2A SCN1A
21 ion transmembrane transport GO:0034220 9.28 SCN9A SCN3A SCN2A SCN1B SCN1A GABRG2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.8 SCN9A SCN3A SCN2A SCN1B SCN1A CACNA1A
2 neurotransmitter receptor activity GO:0030594 9.69 GABRG2 GABRB3 GABRA1
3 cation channel activity GO:0005261 9.65 SCN9A SCN3A SCN2A SCN1A CACNA1A
4 chloride channel activity GO:0005254 9.63 GABRG2 GABRB3 GABRA1
5 extracellular ligand-gated ion channel activity GO:0005230 9.61 GABRG2 GABRB3 GABRA1
6 GABA-A receptor activity GO:0004890 9.58 GABRG2 GABRB3 GABRA1
7 sodium channel activity GO:0005272 9.55 SCN9A SCN3A SCN2A SCN1B SCN1A
8 GABA-gated chloride ion channel activity GO:0022851 9.54 GABRG2 GABRB3 GABRA1
9 benzodiazepine receptor activity GO:0008503 9.49 GABRG2 GABRA1
10 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.48 GABRG2 GABRA1
11 voltage-gated sodium channel activity GO:0005248 9.35 SCN9A SCN3A SCN2A SCN1B SCN1A
12 ion channel activity GO:0005216 9.23 SCN9A SCN3A SCN2A SCN1A GABRG2 GABRB3

Sources for Dravet Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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