CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy - Vigipallia

0 avis

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

Archive ouverte

Fichou, Yann | Bieth, E. | Bahi-Buisson, Nadia | Nectoux, J. | Girard, Benoit | Chelly, Jamel | Chaix, Y. | Bienvenu, T. | Elia, M. | Falco, M. | Fichera, M.

Edité par CCSD ; American Academy of Neurology -

International audience

Langue: en

Consulter en ligne

Consulter le document

Suggestions

Du même auteur

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene

Archive ouverte | Bahi-Buisson, Nadia | CCSD

International audience

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

Archive ouverte | Bahi-Buisson, Nadia | CCSD

International audience

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

Archive ouverte | Fichou, Yann | CCSD

International audience

Chargement des enrichissements...