Art

J-GLOBAL ID：201202282017837233   Reference number：12A0330905

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

PRRT2変異は、ヒョレアアテトーシス症候群によって良性家族性乳児てんかんおよび乳児けいれんを引き起こす

Author (30)： HERON Sarah E. (Epilepsy Res. Program, School of Pharmacy and Medical Sciences, Univ. of South Australia, Adelaide, South Australia ...) ,  GRINTON Bronwyn E. (Epilepsy Res. Centre, Dep. of Medicine, Univ. of Melbourne, Austin Health, Heidelberg, Victoria 3084 Australia) ,  KIVITY Sara (Schneider Children’s Medical Center of Israel, Petach Tikvah 49202, ISR) ,  AFAWI Zaid (Tel-Aviv Univ., Tel-Aviv 69978, ISR) ,  ZUBERI Sameer M. (Paediatric Neurosciences Res. Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children ...) ,  HUGHES James N. (School of Molecular and Biomedical Sci., the Univ. of Adelaide, Adelaide, South Australia 5005, AUS) ,  PRIDMORE Clair (Dep. of Neurology, Women’s and Children’s Hospital, North Adelaide, South Australia 5006, AUS) ,  HODGSON Bree L. (Epilepsy Res. Program, School of Pharmacy and Medical Sciences, Univ. of South Australia, Adelaide, South Australia ...) ,  IONA Xenia (Epilepsy Res. Program, School of Pharmacy and Medical Sciences, Univ. of South Australia, Adelaide, South Australia ...) ,  SADLEIR Lynette G. (Dep. of Paediatrics, Univ. of Otago, Wellington 6242, NZL) ,  PELEKANOS James (Epilepsy Res. Centre, Dep. of Medicine, Univ. of Melbourne, Austin Health, Heidelberg, Victoria 3084 Australia) ,  PELEKANOS James (Academic Discipline of Paediatrics and Child Health, The Univ. of Queensland, St. Lucia, Brisbane, Queensland 4072, AUS) ,  HERLENIUS Eric (Neonatal Res. Unit, Dep. of Women’s and Children’s Health, Astrid Lindgren Children’s Hospital, Karolinska ...) ,  GOLDBERG-STERN Hadassa (Schneider Children’s Medical Center of Israel, Petach Tikvah 49202, ISR) ,  BASSAN Haim (Pediatric Neurology and Dev. Unit, Dana Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel-Aviv 64239, ISR) ,  HAAN Eric (South Australian Clinical Genetics Serv., SA Pathology, Women’s and Children’s Hospital, North Adelaide, South ...) ,  KORCZYN Amos D. (Tel-Aviv Univ., Tel-Aviv 69978, ISR) ,  GARDNER Alison E. (Neurogenetics Program, SA Pathology, Women’s and Children’s Hospital, North Adelaide, South Australia 5006, AUS) ,  CORBETT Mark A. (Neurogenetics Program, SA Pathology, Women’s and Children’s Hospital, North Adelaide, South Australia 5006, AUS) ,  GECZ Jozef (School of Molecular and Biomedical Sci., the Univ. of Adelaide, Adelaide, South Australia 5005, AUS) ,  GECZ Jozef (Neurogenetics Program, SA Pathology, Women’s and Children’s Hospital, North Adelaide, South Australia 5006, AUS) ,  GECZ Jozef (School of Paediatrics and Reproductive Health, the Univ. of Adelaide, Adelaide, South Australia 5005, AUS) ,  THOMAS Paul Q. (School of Molecular and Biomedical Sci., the Univ. of Adelaide, Adelaide, South Australia 5005, AUS) ,  MULLEY John C. (School of Molecular and Biomedical Sci., the Univ. of Adelaide, Adelaide, South Australia 5005, AUS) ,  MULLEY John C. (School of Paediatrics and Reproductive Health, the Univ. of Adelaide, Adelaide, South Australia 5005, AUS) ,  MULLEY John C. (Dep. of Genetic Medicine, SA Pathology, Women’s and Children’s Hospital, North Adelaide, South Australia 5006, AUS) ,  BERKOVIC Samuel F. (Epilepsy Res. Centre, Dep. of Medicine, Univ. of Melbourne, Austin Health, Heidelberg, Victoria 3084 Australia) ,  SCHEFFER Ingrid E. (Epilepsy Res. Centre, Dep. of Medicine, Univ. of Melbourne, Austin Health, Heidelberg, Victoria 3084 Australia) ,  SCHEFFER Ingrid E. (Florey Neuroscience Institutes and Dep. of Paediatrics, Univ. of Melbourne, Royal Children’s Hospital, Parkville ...) ,  DIBBENS Leanne M. (Epilepsy Res. Program, School of Pharmacy and Medical Sciences, Univ. of South Australia, Adelaide, South Australia ...)
Material： American Journal of Human Genetics  (AJHG)
Volume： 90  Issue： 1  Page： 152-160  Publication year： Jan. 13, 2012 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (6)： 変異 ,  ヒョレアアテトーシス ,  症候 ,  家族 ,  乳児てんかん ,  乳児けいれん