| H00806 | |
| H番号 | H00806 |
| 名称 | 良性家族性新生児けいれん |
| 概要 | Benign familial neonatal seizure (BFNS) is a benign epilepsy syndromes with autosomal dominant inheritance. They are a group of epilepsies which have a primary genetic background, usually no structural brain abnormalities and most of them have a benign course without additional neurological symptoms. BFNS are caused by loss-of-function mutations in the two genes KCNQ2 and KCNQ3 encoding the voltage-gated K+ channels. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (BFNS1) KCNQ2 [HSA:3785] [KO:K04927] (BFNS2) KCNQ3 [HSA:3786] [KO:K04928] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A61.10 ICD-10: G40.3 OMIM: 121200 121201 |
| 文献 | PMID:20196795 著者 Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE タイトル Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 雑誌 Epilepsia 51:676-85 (2010) DOI:10.1111/j.1528-1167.2010.02522.x PMID:21395569 著者 Mulley JC, Heron SE, Dibbens LM タイトル Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies. 雑誌 Epilepsia 52:649-50 (2011) DOI:10.1111/j.1528-1167.2010.02953.x PMID:20371507 著者 Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H タイトル Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. 雑誌 Brain 133:1403-14 (2010) DOI:10.1093/brain/awq057 PMID:11572947 著者 Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK タイトル Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. 雑誌 Proc Natl Acad Sci U S A 98:12272-7 (2001) DOI:10.1073/pnas.211431298 |