1.
Clin Genet
; 51(5): 326-30, 1997 May.
Article
in English
| MEDLINE
| ID: mdl-9212181
ABSTRACT
Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.
Subject(s)
Abnormalities, Multiple/genetics , Arabs/genetics , Cerebellum/abnormalities , Cerebral Cortex/abnormalities , Epilepsies, Myoclonic/genetics , Abnormalities, Multiple/pathology , Adult , Brain/pathology , Epilepsies, Myoclonic/pathology , Female , Humans , Intellectual Disability/genetics , Magnetic Resonance Imaging , Male , Pedigree , Syndrome
2.
