Lissencephaly (“smooth brain,” LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, and subcortical band heterotopia. Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS—LIS1 (PAFAH1B1) and DCX.
Lissencephaly : Expanded imaging and clinical classification / Di Donato, N; Chiara, S; Mirzaa, Gm; Aldinger, K; Parrini, E; Olds, C; Barkovich, Aj; Guerrini, R; Dobyns, Wb. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4833. - ELETTRONICO. - (2017), pp. 1473-1478.
Lissencephaly : Expanded imaging and clinical classification
PARRINI, ELENA;Guerrini R;
2017
Abstract
Lissencephaly (“smooth brain,” LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, and subcortical band heterotopia. Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS—LIS1 (PAFAH1B1) and DCX.
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