Dravet syndrome

Preferred Label : Dravet syndrome;

Symbol : DRVT;

CISMeF acronym : EIEE6; SMEI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Severe myoclonic epilepsy of infancy; SMEI; DEE6A; Developmental and epileptic encephalopathy 6a; Epileptic encephalopathy, early infantile, 6; EIEE6;

Description : Dravet syndrome, first described by Dravet (1978), is an early-onset 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. 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium voltage-gated channel, alpha subunit 1 gene (SCN1A, 182389.0007);

Prefixed ID : #607208;

Details

Origin ID

607208;

UMLS CUI

C0751122;

Automatic exact mappings (from CISMeF team)
- sodium voltage-gated channel alpha subunit 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 6A [NCIt concept]
- Dravet Syndrome [NCIt concept]
- Dravet syndrome [PASCAL descriptor]
- Dravet syndrome [DO Concept]
- Dravet syndrome [DO Concept]
- Dravet syndrome [ICD-11 Sub-sub category]
- Dravet syndrome [ORDO Disease]
- Dravet syndrome [MedDRA LLT]
- Severe myoclonic epilepsy in infancy (disorder) [SNOMED CT concept]
- Severe myoclonic epilepsy of infancy [MedDRA Preferred Term]
- epilepsy, myoclonic, infantile, severe [MeSH concept]
- severe myoclonic epilepsy of infancy [Disease (Nov.)]
DO Cross reference
- Dravet syndrome [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Atonic seizure [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Developmental regression [HPO term]
- Epilepsy [HPO term]
- Epileptic encephalopathy [HPO term]
- Focal aware seizure [HPO term]
- Focal hemiclonic seizure [HPO term]
- Focal impaired awareness seizure [HPO term]
- Generalized clonic seizure [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, moderate [HPO term]
- Intellectual disability, severe [HPO term]
- Mental deterioration [HPO term]
- Motor delay [HPO term]
- Myoclonic seizure [HPO term]
- Secondary microcephaly [HPO term]
- Status epilepticus [HPO term]
- Visually-induced seizure [HPO term]
ORDO concept(s)
- Dravet syndrome [ORDO Disease]
See also inter- (CISMeF)
- Developmental and Epileptic Encephalopathy 2 [NCIt concept]
- SCN1A wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 6A [NCIt concept]
- Dravet Syndrome [NCIt concept]
- Dravet syndrome [MedDRA LLT]
- Dravet syndrome [ORDO Disease]
- Severe myoclonic epilepsy in infancy (disorder) [SNOMED CT concept]
- Severe myoclonic epilepsy of infancy [MedDRA Preferred Term]
- epilepsy, myoclonic, infantile, severe [MeSH concept]
Validated automatic mappings to NTBT
- epilepsies, myoclonic [MeSH Descriptor]

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