We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X- linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in similar to 20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly- pachygyria are caused by mutations of LIS1 and XLIS genes.
Genetic malformations of the cerebral cortex and epilepsy / R. GUERRINI. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - 46 (supl1):(2005), pp. 32-37. [10.1111/j.0013-9580.2005.461010.x]
Genetic malformations of the cerebral cortex and epilepsy.
GUERRINI, RENZO
2005
Abstract
We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X- linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in similar to 20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly- pachygyria are caused by mutations of LIS1 and XLIS genes.
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