Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy-Reference-Cited by-同舟云学术

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy

Published:2009-04 Issue:2 Volume:79 Page:89-96
ISSN:0361-9230
Container-title:Brain Research Bulletin
language:en
Short-container-title:Brain Research Bulletin

Author:

Combi Romina,Grioni Daniele,Contri Margherita,Redaelli Serena,Redaelli Francesca,Bassi Maria Teresa,Barisani Donatella,Lavitrano Maria Luisa,Tredici Giovanni,Tenchini Maria Luisa,Bertolini Mario,Dalprà Leda

Publisher

Elsevier BV

Subject

General Neuroscience

Reference35 articles.

1. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation;Abou-Khalil;Neurology,2001

2. Genes and loci involved in febrile seizures and related epilepsy syndromes;Audenaert;Hum. Mutat.,2006

3. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33;Baulac;Am. J. Hum. Genet.,1999

4. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene;Baulac;Nat. Genet.,2001

5. Benign focal seizures of adolescence: a prospective study;Caraballo;Epilepsia,2004

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1. Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia;Brain Communications;2023-10-17

2. Development and validation of a potent and specific inhibitor for the CLC-2 chloride channel;Proceedings of the National Academy of Sciences;2020-12-04

3. Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review;Frontiers in Pharmacology;2020-08-18

4. Development and validation of a potent and specific inhibitor for the CLC-2 chloride channel;2020-01-08

5. Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE);Brain Research;2017-12