EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68; EIEE68

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68; EIEE68?

Accepted Answer

very rare

autosomal recessive

mutation in the TRAK1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618201

Question 3

Which enzymes are involved?

Accepted Answer

Trafficking kinesin-binding protein 1

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68; EIEE68
OMIM	618201 OMIM = Online Mendelian Inheritance of Men
Orphanet	442835
Protein (UniProt)	Trafficking kinesin-binding protein 1
Gene locus	3p22.1
ICD	G40.4
Summary	very rare autosomal recessive mutation in the TRAK1 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	cerebral atrophy contractures, joints developmental delay early death EEG abnormalities [-] failure to thrive hypertonia, spasticity hypotonia leukoencephalopathy loss of early milestones myoclonus onset, infancy respiratory distress seizures speech development, delayed, abnormal status epilepticus swallowing difficulties tremor or twitching