CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT?

Accepted Answer

very rare
autosomal recessive
mutation in the CLN8 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CNL8-Variante: Progressive Epilepsie und Intelligenzminderung vom finnischen Typ

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610003

Question 4

Which enzymes are involved?

Accepted Answer

Protein CLN8

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
Synonym	NORTHERN EPILEPSY
OMIM	610003 OMIM = Online Mendelian Inheritance of Men
Orphanet	1947
Protein (UniProt)	Protein CLN8
Gene locus	8p23.3
ICD	E75.4
Summary	very rare autosomal recessive mutation in the CLN8 gene
Laboratory findings
Symptoms	abnormal movement ataxia behavior, hyperactive, restless cerebellar atrophy or hypoplasia cerebral atrophy EEG abnormalities [-] Electron microscopy [-] irritability mental retardation myoclonus onset, childhood seizures speech development, delayed, abnormal