KEGG   DISEASE: H00806Help
Entry
H00806                      Disease                                

Name
Benign familial neonatal and infantile epilepsies, including:
Benign familial neonatal epilepsy (BFNE);
Benign familial neonatal infantile epilepsy (BFNIE);
Benign familial infantile epilepsy (BFIE)
Description
Benign familial neonatal epilepsy (BFNE), benign familial neonatal infantile epilepsy (BFNIE), and benign familial infantile epilepsy (BFIE) are three benign epilepsy syndromes with autosomal dominant inheritance distinguished by ascending average ages of seizure onset (mean age at onset of 2-3 days; 11 weeks; and 6 months, respectively). They are a group of genetic (idiopathic) epilepsies which have a primary genetic background, usually no structural brain abnormalities and most of them have a benign course without additional neurological symptoms. For BFNE and BFNIE, genetic defects have already been identified. Whereas BFNE are caused by loss-of-function mutations in the two genes KCNQ2 and KCNQ3 encoding the voltage-gated K+ channels Kv7.2 and Kv7.3, mutations in the gene SCN2A encoding the voltage-gated Na+ channel Nav1.2 have been detected in BFNIE. There are as yet no known genes identified for BFIE.
Category
Nervous system disease
BRITE hierarchy
Pathway
Cholinergic synapse
Gene
(BFNE) KCNQ2 [HSA:3785] [KO:K04927]
(BFNE) KCNQ3 [HSA:3786] [KO:K04928]
(BFNIE) SCN2A [HSA:6326] [KO:K04834]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:20196795 (name)
  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)
Reference
PMID:21395569 (description, gene)
  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)
Reference
PMID:20371507 (description, gene)
  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)

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