EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11?

Accepted Answer

rare
autosomal dominant
mutation in the SCN2A gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Frühinfantil-epileptische Enzephalopathie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613721

Question 4

Which enzymes are involved?

Accepted Answer

Sodium channel protein type 2 subunit alpha

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11
OMIM	613721 OMIM = Online Mendelian Inheritance of Men
Orphanet	1934
Protein (UniProt)	Sodium channel protein type 2 subunit alpha
Gene locus	2q24.3
ICD	G40.3
Summary	rare autosomal dominant mutation in the SCN2A gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	chorea or athetosis developmental delay EEG abnormalities [-] encephalopathy epilepsy hypotonia onset, infancy seizures spastic diplegia/quadriplegia/tetraplegia