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Epileptic encephalopathy, early infantile, 1

*Gene map locus Xp22.13
EIEE1
ISSX1
Infantile epileptic-dyskinetic encephalopathy
Infantile spasm syndrome, X-linked 1
West syndrome, X-linked
XMESID
[Clinical features: early-onset generalized seizures; hypsarrhythmia; mental retardation]
[Inheritance: X-linked vs. multifactorial (polygenic plus environmental)]

Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation
Mutations in the X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation
Mutations in the X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation
American Journal of Human Genetics
American Journal of Human Genetics
American Journal of Human Genetics

 
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
 
European Journal of Human Genetics
Journal of Medical Genetics
 


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Edited by Aldo Campana, April 18, 2014