Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

C, Bar; M, Kuchenbuch; G, Barcia; A, Schneider; M, Jennesson; Guyader G, Le; G, Lesca; C, Mignot; M, Montomoli; E, Parrini; H, Isnard; A, Rolland; B, Keren; A, Afenjar; N, Dorison; LG, Sadleir; D, Breuillard; R, Levy; M, Rio; S, Dupont; S, Negrin; A, Danieli; E, Scalais; Saint Martin A, De; Chehadeh S, El; J, Chelly; A, Poisson; AS, Lebre; A, Nica; S, Odent; T, Sekhara; V, Brankovic; A, Goldenberg; P, Vrielynck; D, Lederer; H, Maurey; G, Terrone; C, Besmond; L, Hubert; P, Berquin; de Villemeur T, Billette; B, Isidor; JL, Freeman; HC, Mefford; CT, Myers; KB, Howell; Cascajo A, Rodríguez-Sacristán; P, Meyer; D, Genevieve; A, Guët; D, Doummar; J, Durigneux; Dooren MF, van; Wit MCY, de; M, Gerard; I, Marey; A, Munnich; R, Guerrini; IE, Scheffer; E, Kabashi; R, Nabbout

doi:10.1111/epi.16679

Public

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Shared by NobleBlocks on Sep 21, 2020 • 12:00 AM UTC

Authors:

Bar C

Kuchenbuch M

Barcia G

Abstract

Objective We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy.Methods We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, wit...

Subject

Potassium channels

Autism Spectrum Disorders

Sudden Unexpected Death In Epilepsy

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!