EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 (EIG10)

Question 1

What is  EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 (EIG10)?

Accepted Answer

rare

autosomal recessive

variation in the GABRD gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 613060

Question 3

Which enzymes are involved?

Accepted Answer

Gamma-aminobutyric acid receptor subunit delta

Disease	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 (EIG10)
Synonym	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO, INCLUDED; GEFS5, INCLUDED
OMIM	613060 OMIM = Online Mendelian Inheritance of Men
Orphanet	36387
Protein (UniProt)	Gamma-aminobutyric acid receptor subunit delta
Gene locus	1p36.33
ICD	G40.3
Summary	rare autosomal recessive variation in the GABRD gene
Laboratory findings	no metabolic abnormalities (urine)
Symptoms	myoclonus onset, childhood onset, infancy seizures