A novel allele in a familial case of idiopathic epilepsy in a small island state

Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/87795

Title:	A novel allele in a familial case of idiopathic epilepsy in a small island state
Authors:	Mifsud, Janet Cassar, M.
Keywords:	Epilepsy -- Genetic aspects Alleles Epilepsy -- Malta
Issue Date:	2009-12
Publisher:	John Wiley & Sons, Inc.
Citation:	Mifsud, J., & Cassar, M. (2009). A novel allele in a familial case of idiopathic epilepsy in a small island state. Epilepsia, 50(s11), 298-299.
Abstract:	RATIONALE: Linkage analysis of large families with plays a major role in research on genetics of epilepsy. In this study, a novel allele was identified through possible novel causative loci in a chromosomal interval that is linked to the epilepsy phenotype in a three generation Maltese family. METHODS: High density single nucleotide polymorphisims (SNP) gene-chips were used to perform the linkage analysis. Analysis of the DNA from affected family members identified a linkage interval of about 20cM on chromosome 20 (20q13.32-33) which gave a parametric LOD score of 2.67. [excerpt]
URI:	https://www.um.edu.mt/library/oar/handle/123456789/87795
Appears in Collections:	Scholarly Works - FacM&SCPT

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