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.
2005
20
287
299
Guerrini R; Filippi T
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/375504
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 131
  • ???jsp.display-item.citation.isi??? 113
social impact