KEGG   DISEASE: Hyperekplexia and epilepsy
Entry
H02353                      Disease                                
Name
Hyperekplexia and epilepsy;
Early infantile epileptic encephalopathy-8
  Supergrp
Early infantile epileptic encephalopathy [DS:H00606]
Symptomatic generalized epilepsies [DS:H00577]
Hyperekplexia [DS:H00769]
Description
Hyperekplexia and epilepsy is also known as early infantile epileptic encephalopathy 8 (EIEE8) [DS:H00606]. It is an X-linked mental retardation and sensory hyperarousal, caused by mutations in ARHGEF9. Collybistin, encoded by ARHGEF9, is a RhoGEF family protein and highly expressed in the developing and adult brain.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02353  Hyperekplexia and epilepsy
Gene
ARHGEF9 [HSA:23229] [KO:K20686]
Other DBs
ICD-11: LD90.Y
MeSH: C564474
OMIM: 300607
Reference
PMID:21633362
  Authors
Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T
  Title
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
  Journal
J Hum Genet 56:561-5 (2011)
DOI:10.1038/jhg.2011.58
Reference
PMID:17893116
  Authors
Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH
  Title
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
  Journal
J Med Genet 45:100-5 (2008)
DOI:10.1136/jmg.2007.052324
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