H00806 | |
H number | H00806 |
Name | Benign familial neonatal seizure |
Description | 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. |
Category | Nervous system disease |
Network | - |
Gene | (BFNS1) KCNQ2 [HSA:3785] [KO:K04927] (BFNS2) KCNQ3 [HSA:3786] [KO:K04928] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8A61.10 ICD-10: G40.3 OMIM: 121200 121201 |
Reference | PMID:20196795 AUTHORS 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 TITLE Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. JOURNAL Epilepsia 51:676-85 (2010) DOI:10.1111/j.1528-1167.2010.02522.x PMID:21395569 AUTHORS Mulley JC, Heron SE, Dibbens LM TITLE Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies. JOURNAL Epilepsia 52:649-50 (2011) DOI:10.1111/j.1528-1167.2010.02953.x PMID:20371507 AUTHORS 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 TITLE Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. JOURNAL Brain 133:1403-14 (2010) DOI:10.1093/brain/awq057 PMID:11572947 AUTHORS Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK TITLE Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. JOURNAL Proc Natl Acad Sci U S A 98:12272-7 (2001) DOI:10.1073/pnas.211431298 |