Several malformation syndromes with abnormal cortical development have been recognized. Specific causative gene 44 defects and characteristic electroclinical patterns have been identified for some. X-linked periventricular nodular heterotopia is mainly seen in female patients and is often associated with focal epilepsy. FLN1 mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of periventricular nodular heterotopia owing to ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay, and early-onset seizures. Lissencephaly-pachygyria and subcortical band heterotopia represent a malformative spectrum resulting from mutations of either the LIS1 or the DCX (XLIS) gene. LIS1 mutations cause a more severe malformation posteriorly.
Neuronal migration disorders: genetics and epileptogenesis / Guerrini R; Filippi T. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 0883-0738. - STAMPA. - 20:(2005), pp. 287-299. [10.1177/08830738050200040401]
Neuronal migration disorders: genetics and epileptogenesis.
GUERRINI, RENZO;
2005
Abstract
Several malformation syndromes with abnormal cortical development have been recognized. Specific causative gene 44 defects and characteristic electroclinical patterns have been identified for some. X-linked periventricular nodular heterotopia is mainly seen in female patients and is often associated with focal epilepsy. FLN1 mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of periventricular nodular heterotopia owing to ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay, and early-onset seizures. Lissencephaly-pachygyria and subcortical band heterotopia represent a malformative spectrum resulting from mutations of either the LIS1 or the DCX (XLIS) gene. LIS1 mutations cause a more severe malformation posteriorly.I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.