Similar early characteristics but variable neurological outcome of patients with a de novo mutation...
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
About this item
Full title
Author / Creator
Milh, Mathieu , Boutry-Kryza, Nadia , Sutera-Sardo, Julie , Mignot, Cyril , Auvin, Stéphane , Lacoste, Caroline , Villeneuve, Nathalie , Roubertie, Agathe , Heron, Bénédicte , Carneiro, Maryline , Kaminska, Anna , Altuzarra, Cécilia , Blanchard, Gaëlle , Ville, Dorothée , Barthez, Marie Anne , Heron, Delphine , Gras, Domitille , Afenjar, Alexandra , Dorison, Nathalie , Doummar, Dianne , Billette de Villemeur, Thierry , An, Isabelle , Jacquette, Aurélia , Charles, Perrine , Perrier, Julie , Isidor, Bertrand , Vercueil, Laurent , Chabrol, Brigitte , Badens, Catherine , Lesca, Gaétan and Villard, Laurent
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development. Several genes have been associated with EOEE and a molecular diagnosis workup is challenging since similar phenotypes are associated with mutations in different g...
Alternative Titles
Full title
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Authors, Artists and Contributors
Author / Creator
Boutry-Kryza, Nadia
Sutera-Sardo, Julie
Mignot, Cyril
Auvin, Stéphane
Lacoste, Caroline
Villeneuve, Nathalie
Roubertie, Agathe
Heron, Bénédicte
Carneiro, Maryline
Kaminska, Anna
Altuzarra, Cécilia
Blanchard, Gaëlle
Ville, Dorothée
Barthez, Marie Anne
Heron, Delphine
Gras, Domitille
Afenjar, Alexandra
Dorison, Nathalie
Doummar, Dianne
Billette de Villemeur, Thierry
An, Isabelle
Jacquette, Aurélia
Charles, Perrine
Perrier, Julie
Isidor, Bertrand
Vercueil, Laurent
Chabrol, Brigitte
Badens, Catherine
Lesca, Gaétan
Villard, Laurent
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3670812
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3670812
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-8-80
