EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32?

Accepted Answer

rare

autosomal dominant

mutation in the KCNA2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616366

Question 3

Which enzymes are involved?

Accepted Answer

Potassium voltage-gated channel subfamily A member 2

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32
OMIM	616366 OMIM = Online Mendelian Inheritance of Men
Orphanet	442835
Protein (UniProt)	Potassium voltage-gated channel subfamily A member 2
Gene locus	1p13.3
ICD	G40.4
Summary	rare autosomal dominant mutation in the KCNA2 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	ataxia encephalopathy epilepsy intellectual disability/intellectual developmental disorder microcephaly (<2 SD for age) myoclonus onset, infancy onset, neonatal seizures spastic diplegia/quadriplegia/tetraplegia