EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8

Question 1

What is  EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8?

Accepted Answer

very rare

autosomal recessive

mutation in the CERS1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616230

Question 3

Which enzymes are involved?

Accepted Answer

Ceramide synthase 1

Disease	EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8
Synonym	CERAMIDE SYNTHASE 1 DEFICIENCY
OMIM	616230 OMIM = Online Mendelian Inheritance of Men
Orphanet	424027
Protein (UniProt)	Ceramide synthase 1
ExPASy	2.3.1.24
Gene locus	19p13.11
ICD	G40.3
Summary	very rare autosomal recessive mutation in the CERS1 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	ataxia cerebellar atrophy or hypoplasia cognitive impairment dementia EEG abnormalities [-] mental retardation myoclonus onset, adolescent onset, childhood seizures