Research on the trial of gene diagnosis setting of febrile convulsion, autosome dominance epilepsy febrile convulsion plus and infant seriousness myoclonus epilepsy.
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Accession number;03A0568609
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| Title;Research on the trial of gene diagnosis setting of febrile convulsion, autosome dominance epilepsy febrile convulsion plus and infant seriousness myoclonus epilepsy. |
| Author;
KANEKO TADASHI
(Hirosakidai Shinkeiseishinka)
OKADA MOTOHIRO
(Fukuoka Univ., Fac. of Med.)
ITO MASATOSHI
(Shiga Medical Center for Children, JPN)
MIYAJIMA YU
(Tokyo Medical Univ., JPN)
SHIRASAKA YUKIYOSHI
(Kobe City General Hospital, Pediatrics, JPN)
MATSUO MUNEAKI
(Fac. Medicine, Saga Medical School, JPN)
YAMAKAWA KAZUHIRO
(Inst. of Physical and Chemical Res.)
WAKAI SHUJI
(Sapporo Medical Univ., School of Medicine, JPN)
WADA ICHIMARU
(Hirosaki Univ., Sch. of Med.)
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Journal Title;Annual Report of the Research on Nervous and Mental Disorders 2002
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Journal Code:N20031207
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ISSN:
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VOL.;NO.;PAGE.14(2003)
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| Figure&Table&Reference;REF.7 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;For core SMEI ( infant seriousness myoclonus epilepsy of isolated starting property and poor prognosis ) or SMEB of 61 cases, existence of the mutation of SCN1A, SCN2A, SCN1B and SCN2B was analyzed using a direct sequence method with the purpose of responsibility gene identification. Though much mutation of SCN1A was found, It was clarified that SMEB are variant of SMEI and that modifyinggene exists. |
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