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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Haug, K. MacDonald, B. T. Meisler, M. H. Heils, A. Sander, T. Escayg, A. |
| Description | Country affiliation: United States Author Affiliation: Escayg A ( Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.) |
| Abstract | We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2. To assess the contribution that SCN1A makes to other types of epilepsy, 226 patients with either juvenile myoclonic epilepsy, absence epilepsy, or febrile convulsions were screened by conformation-sensitive gel electrophoresis and manual sequencing of variants; the sample included 165 probands from multiplex families and 61 sporadic cases. The novel mutation W1204R was identified in a family with GEFS+. Seven other coding changes were observed; three of these are potential disease-causing mutations. Two common haplotypes, with frequencies of .67 and .33, were defined by five single-nucleotide polymorphisms (SNPs) spanning a 14-kb region of linkage disequilibrium. An SNP located 18 bp upstream of the splice-acceptor site for exon 3 was observed in 7 of the 226 patients but was not present in 185 controls, suggesting possible association with a disease mutation. This work has confirmed the role of SCN1A in GEFS+, by identification of a novel mutation in a previously undescribed family. Although a few candidate disease alleles were identified, the patient survey suggests that SCN1A is not a major contributor to idiopathic generalized epilepsy. The SCN1A haplotypes and SNPs identified here will be useful in future association and linkage studies. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 4 |
| Volume Number | 68 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2001-04-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Epilepsy, Generalized Genetics Epilepsy Genetic Variation Mutation Nerve Tissue Proteins Seizures, Febrile Sodium Channels Amino Acid Sequence Conserved Sequence Cyclic Amp-dependent Protein Kinases Metabolism Dna Mutational Analysis Exons Gene Frequency Genetic Testing Haplotypes Introns Molecular Sequence Data Nav1.1 Voltage-gated Sodium Channel Pedigree Phosphorylation Polymorphism, Single Nucleotide Protein-tyrosine Kinases Sequence Alignment Syndrome Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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