Skip to search formSkip to main contentSkip to account menu

SEIZURES, BENIGN FAMILIAL INFANTILE, 3

Known as: SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE, CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3, BFNIS 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal dominant inheritanceCyanosisFamilial benign neonatal epilepsySCN2A wt Allele

Broader (1)

Benign neonatal epilepsy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet
2016
2016
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A
Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset… 
Highly Cited
2013
Highly Cited
2013
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap… 
2011
2011
Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies
The revised International League Against Epilepsy (ILAE) classification and terminology (Berg et al., 2010) acknowledges that the… 
2008
2008
A BFIS‐like syndrome with late onset and febrile seizures: Suggestive linkage to chromosome 16p11.2–16q12.1
Benign familial infantile seizures (BFIS) is a dominant idiopathic epilepsy with partial and secondarily generalized seizures… 
Highly Cited
2007
Highly Cited
2007
SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum
Summary:  Mutations of the sodium channel subunit gene SCN2A have been described in families with benign familial neonatal… 
Highly Cited
2006
Highly Cited
2006
Effects in Neocortical Neurons of Mutations of the Nav1.2 Na+ Channel causing Benign Familial Neonatal-Infantile Seizures
Mutations of voltage-gated Na+ channels are the most common cause of familial epilepsy. Benign familial neonatal-infantile… 
Highly Cited
2006
Highly Cited
2006
A Novel SCN2A Mutation in Family with Benign Familial Infantile Seizures
Summary:  Benign familial infantile seizures (BFIS) is a clinical entity characterized by focal seizures with or without… 
2006
2006
Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families
Summary:  Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial… 
Highly Cited
2004
Highly Cited
2004
Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy
We recently reported mutations in the sodium channel gene SCN2A in two families with benign familial neonatal‐infantile seizures… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)