KEGG   DISEASE: Benign familial neonatal and infantile epilepsiesHelp
H00806                      Disease                                

Benign familial neonatal and infantile epilepsies
Benign familial neonatal epilepsy (BFNE)
Benign familial neonatal infantile epilepsy (BFNIE)
Benign familial infantile epilepsy (BFIE)
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.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
   H00806  Benign familial neonatal and infantile epilepsies
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G40-G47  Episodic and paroxysmal disorders
   G40  Epilepsy and recurrent seizures
    H00806  Benign familial neonatal and infantile epilepsies
BRITE hierarchy
hsa04725  Cholinergic synapse
(BFNE) KCNQ2 [HSA:3785] [KO:K04927]
(BFNE) KCNQ3 [HSA:3786] [KO:K04928]
(BFNIE) SCN2A [HSA:6326] [KO:K04834]
Other DBs
ICD-10: G40.3
OMIM: 121200 121201 607745
PMID:20196795 (name)
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
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Epilepsia 51:676-85 (2010)
PMID:21395569 (description, gene)
Mulley JC, Heron SE, Dibbens LM
Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies.
Epilepsia 52:649-50 (2011)
PMID:20371507 (description, gene)
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
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
Brain 133:1403-14 (2010)

» Japanese version

DBGET integrated database retrieval system