DS

E874305

DS is a rare, severe form of epilepsy that begins in infancy and is characterized by prolonged seizures, developmental delays, and a high risk of complications.

All labels observed (1)

Label Occurrences
DS canonical 1

How this entity was disambiguated

Statements (51)

Predicate Object
instanceOf epileptic encephalopathy ⓘ
genetic disorder ⓘ
rare disease ⓘ
affects brain ⓘ
nervous system ⓘ
associatedWithGene SCN1A ⓘ
characterizedBy behavioral problems ⓘ
cognitive impairment ⓘ
developmental delay ⓘ
drug-resistant seizures ⓘ
febrile seizures ⓘ
motor impairment ⓘ
prolonged seizures ⓘ
contraindicatedDrug carbamazepine ⓘ
lamotrigine ⓘ
phenytoin ⓘ
firstDescribed 1978 ⓘ
fullName Severe myoclonic epilepsy of infancy ⓘ
linked to: Dravet syndrome
hasAbbreviation DS ⓘ
SMEI ⓘ
hasCause SCN1A gene mutation ⓘ
hasComplication developmental regression ⓘ
gait abnormalities ⓘ
recurrent status epilepticus ⓘ
sudden unexpected death in epilepsy ⓘ
hasRisk high mortality ⓘ
injury during seizures ⓘ
hasSymptom ataxia ⓘ
autistic features ⓘ
focal seizures ⓘ
generalized tonic-clonic seizures ⓘ
myoclonic seizures ⓘ
photosensitivity ⓘ
sleep disturbances ⓘ
speech delay ⓘ
status epilepticus ⓘ
inheritancePattern usually de novo ⓘ
namedAfter Charlotte Dravet ⓘ
onset infancy ⓘ
prevalence rare ⓘ
treatedWith cannabidiol ⓘ
clobazam ⓘ
fenfluramine ⓘ
stiripentol ⓘ
valproate ⓘ
triggeredBy fever ⓘ
flashing lights ⓘ
heat ⓘ
infection ⓘ
typicalCourse lifelong ⓘ
typicalOnsetAge first year of life ⓘ

How these facts were elicited

Referenced by (1)

Full triples — surface form annotated when it differs from this entity's canonical label.