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, August 21, 2012