LISSENCEPHALY ASSOCIATED WITH CEREBELLAR HYPOPLASIA AND MYOCLONIC EPILEPSY IN A BEDOUIN KINDRED - A NEW SYNDROME

Citation
S. Farah et al., LISSENCEPHALY ASSOCIATED WITH CEREBELLAR HYPOPLASIA AND MYOCLONIC EPILEPSY IN A BEDOUIN KINDRED - A NEW SYNDROME, Clinical genetics, 51(5), 1997, pp. 326-330
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
51
Issue
5
Year of publication
1997
Pages
326 - 330
Database
ISI
SICI code
0009-9163(1997)51:5<326:LAWCHA>2.0.ZU;2-P
Abstract
Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myo clonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.