EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3?

Accepted Answer

rare
autosomal recessive
mutation in the SLC25A22 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Frühinfantil-epileptische Enzephalopathie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609304

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial glutamate carrier 1

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3
OMIM	609304 OMIM = Online Mendelian Inheritance of Men
Orphanet	1934
Protein (UniProt)	Mitochondrial glutamate carrier 1
Gene locus	11p15.5
ICD	G40.3
Summary	rare autosomal recessive mutation in the SLC25A22 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	cerebral atrophy early death EEG abnormalities [-] encephalopathy epilepsy hypertonia, spasticity hypotonia microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, infancy onset, neonatal seizures