Academic Journal
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: First evidence for an altered channel regulation by syntaxin-1A
| العنوان: | Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: First evidence for an altered channel regulation by syntaxin-1A |
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| المؤلفون: | Soldovieri, Mv, Boutry Kryza, N, Milh, M, Doummar, D, Heron, B, Bourel, E, Ambrosino, P, De Maria, M, Dorison, N, Auvin, S, Echenne, B, Oertel, J, Riquet, A, Lambert, L, Gerard, M, Roubergue, A, Calender, A, Mignot, C, Lesca, G., MICELI, Francesco, TAGLIALATELA, MAURIZIO |
| المساهمون: | Soldovieri, Mv, Boutry Kryza, N, Milh, M, Doummar, D, Heron, B, Bourel, E, Ambrosino, P, Miceli, Francesco, De Maria, M, Dorison, N, Auvin, S, Echenne, B, Oertel, J, Riquet, A, Lambert, L, Gerard, M, Roubergue, A, Calender, A, Mignot, C, Taglialatela, Maurizio, Lesca, G. |
| سنة النشر: | 2014 |
| المجموعة: | IRIS Università degli Studi di Napoli Federico II |
| مصطلحات موضوعية: | Benign, Familial, KCNQ2, KCNQ3, Neonatal epilepsy, Syntaxin-1A, Voltage-gated potassium channel, Animal, Biotinylation, CHO Cell, Cohort Studie, Cricetulu, Epilepsy, Benign Neonatal, Female, Gene Deletion, Germ-Line Mutation, Human, KCNQ2 Potassium Channel, KCNQ3 Potassium Channel, Male, Mutagenesis, Insertional, Pedigree, Sequence Alignment, Syntaxin 1, Genetic, Genetics (clinical) |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:000331909600013; volume:35; issue:3; firstpage:356; lastpage:367; numberofpages:12; journal:HUMAN MUTATION; http://hdl.handle.net/11588/670041; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84893921173 |
| DOI: | 10.1002/humu.22500 |
| الاتاحة: | http://hdl.handle.net/11588/670041 https://doi.org/10.1002/humu.22500 |
| Rights: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.7F9AA40F |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/humu.22500 |
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