EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6?

Accepted Answer

rare
autosomal dominant
mutation in the SCN1A gene (80%)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Dravet-Syndrom; Schwere infantile Myoklonusepilepsie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607208

Question 4

Which enzymes are involved?

Accepted Answer

Sodium channel protein type 1 subunit alpha

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6
Synonym	DRAVET SYNDROME
OMIM	607208 OMIM = Online Mendelian Inheritance of Men
Orphanet	33069
Protein (UniProt)	Sodium channel protein type 1 subunit alpha
Gene locus	2q24.3
ICD	G40.4
Summary	rare autosomal dominant mutation in the SCN1A gene (80%)
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	ataxia behavior, autism or autistic-like behavior, hyperactive, restless blindness, visual loss, visual impairment cerebral atrophy developmental delay EEG abnormalities [-] encephalopathy epilepsy hyperreflexia intellectual disability/intellectual developmental disorder microcephaly (<2 SD for age) motor retardation myoclonus onset, infancy seizures seizures, absence seizures, myoclonic status epilepticus