EPILEPSY, BENIGN NEONATAL

Question 1

What is  EPILEPSY, BENIGN NEONATAL?

Accepted Answer

rare
autosomal dominant
mutation in the KCNQ2 gene
high penetrance, variable expression

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Neugeborenenkrämpfe, benigne familiäre

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 121200

Question 4

Which enzymes are involved?

Accepted Answer

Potassium voltage-gated channel subfamily KQT member 2

Disease	EPILEPSY, BENIGN NEONATAL
Synonym	CONVULSIONS, BENIGN FAMILIAL NEONATAL
OMIM	121200 OMIM = Online Mendelian Inheritance of Men
Orphanet	1949
Protein (UniProt)	Potassium voltage-gated channel subfamily KQT member 2
Gene locus	20q13.33
ICD	P90, G40.3
Summary	rare autosomal dominant mutation in the KCNQ2 gene high penetrance, variable expression
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	apnea onset, neonatal seizures