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Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?
Author(s) -
Farah S.,
Sabry M. A.,
Khuraibet A.,
Khaffagi S.,
Rudwan M.,
Hassan M.,
Haseeb N.,
Abulhassan S.,
AbdelRasool M. A.,
Elgamal S.,
Qasrawi B.,
AlBusairi W.,
Farag T. I.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02482.x
Subject(s) - lissencephaly , cerebellar hypoplasia (non human) , epilepsy , hypoplasia , medicine , myoclonic epilepsy , pediatrics , cerebellum , neuroscience , psychology , anatomy , psychiatry , genetics , biology , gene
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.