EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39?

Accepted Answer

rare
autosomal recessive
mutation in the SLC25A12 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Epileptische Enzephalopathie mit globaler zerebraler Demyelinisierung

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612949

Question 4

Which enzymes are involved?

Accepted Answer

Calcium-binding mitochondrial carrier protein Aralar1

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39
Synonym	ASPARTATE-GLUTAMATE CARRIER 1 DEFICIENCY; AGC1 DEFICIENCY
OMIM	612949 OMIM = Online Mendelian Inheritance of Men
Orphanet	353217
Protein (UniProt)	Calcium-binding mitochondrial carrier protein Aralar1
Gene locus	2q31.1
ICD	G31.8
Summary	rare autosomal recessive mutation in the SLC25A12 gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	developmental delay encephalopathy hyperreflexia hypertonia, spasticity hypotonia lactic acidosis MRI, brain, abnormalities [-] myelination, incomplete, hypomyelination onset, infancy psychomotor retardation seizures speech development, delayed, abnormal