The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia (PNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex. X-linked PNH is mainly seen in females and is often associated with focal epilepsy.

Genetic malformations of cortical development / R.Guerrini; C. Marini. - In: EXPERIMENTAL BRAIN RESEARCH. - ISSN 0014-4819. - STAMPA. - 173 (2):(2006), pp. 322-333. [10.1007/s00221-006-0501-z]

Genetic malformations of cortical development.

GUERRINI, RENZO;C. Marini
2006

Abstract

The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia (PNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex. X-linked PNH is mainly seen in females and is often associated with focal epilepsy.
2006
173 (2)
322
333
R.Guerrini; C. Marini
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/2158/317392
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 122
  • ???jsp.display-item.citation.isi??? 110
social impact