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An autosomal recessive form of benign familial neonatal seizures
Author(s) -
Schiffmann Raphael,
Shapira Yehuda,
Ryan Stephen G.
Publication year - 1991
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.1399-0004.1991.tb03120.x
Subject(s) - locus (genetics) , genetics , genetic linkage , epilepsy , consanguinity , biology , genetic heterogeneity , medicine , gene , phenotype , neuroscience
We present a consanguineous sibship with benign familial neonatal seizures. The mode of transmission of the disorder in this family seems to be autosomal recessive, which is contrary to the usual autösomal dominant type. Linkage analysis failed to show tight linkage between the disease locus and the autosomal dominant locus assigned to chromosome 20q. We thus conclude that benign familial neonatal seizures is a genetically heterogeneous type of epilepsy.