Abstract | PURPOSE: METHODS: We investigated the molecular basis of Ohtahara syndrome in two families, comprising six male patients in two generations demonstrating X-linked inheritance. RESULTS: Novel frameshift mutations in the terminal exon of the ARX gene (Ala524fsX534 and E536fsX672) were identified in two patients (2 and 13 years, each) from both families. Two patients developed West syndrome, and one of these later developed Lennox-Gastaut syndrome. Brain magnetic resonance imaging (MRI) of all patients showed no brain malformations in contrast to the patients with a premature termination mutation in other exons of ARX. DISCUSSION: The etiology of Ohtahara syndrome is heterogeneous; however, the molecular analysis of ARX should be considered in sporadic or familial male patients with Ohtahara syndrome.
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Authors | Mitushiro Kato, Norihisa Koyama, Masayasu Ohta, Kiyokuni Miura, Kiyoshi Hayasaka |
Journal | Epilepsia
(Epilepsia)
Vol. 51
Issue 9
Pg. 1679-84
(Sep 2010)
ISSN: 1528-1167 [Electronic] United States |
PMID | 20384723
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Wiley Periodicals, Inc. © 2010 International League Against Epilepsy. |
Chemical References |
- ARX protein, human
- Homeodomain Proteins
- Transcription Factors
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Topics |
- Abnormalities, Multiple
(genetics, pathology)
- Brain
(abnormalities, pathology)
- Child
- Electroencephalography
(statistics & numerical data)
- Epilepsy
(diagnosis, genetics, pathology)
- Exons
(genetics)
- Family
(psychology)
- Female
- Frameshift Mutation
(genetics)
- Genes, X-Linked
(genetics)
- Homeodomain Proteins
(genetics)
- Humans
- Infant, Newborn
- Interneurons
(pathology)
- Leigh Disease
(genetics, pathology)
- Male
- Mutation
(genetics)
- Pedigree
- Pregnancy
- Spasms, Infantile
(genetics, pathology)
- Transcription Factors
(genetics)
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