EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 [DD]

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 [DD]?

Accepted Answer

rare
X-linked recessive
mutation in the aristaless-related homeobox gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

X-chromosomale Spastik-Intelligenzminderung-Epilepsie-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 308350

Question 4

Which enzymes are involved?

Accepted Answer

Homeobox protein ARX

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 [DD]
Synonym	WEST SYNDROME, X-LINKED; OHTAHARA SYNDROME, X-LINKED
OMIM	308350 OMIM = Online Mendelian Inheritance of Men
Orphanet	3175
Protein (UniProt)	Homeobox protein ARX
Gene locus	Xp21.3
ICD	G25.3
Summary	rare X-linked recessive mutation in the aristaless-related homeobox gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	chorea or athetosis dysphagia dyspnea dystonia EEG abnormalities [-] epilepsy hyperreflexia hypertonia, spasticity hypotonia mental retardation MRI, brain, abnormalities [-] myoclonus onset, infancy seizures