KEGG   DISEASE: Benign familial neonatal seizure
Entry
H00806                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H00806  Benign familial neonatal seizure
Pathway
hsa04725  Cholinergic synapse
Gene
(BFNS1) KCNQ2 [HSA:3785] [KO:K04927]
(BFNS2) KCNQ3 [HSA:3786] [KO:K04928]
Other DBs
ICD-11: 8A61.10
ICD-10: G40.3
OMIM: 121200 121201
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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