A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation

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Authors: Marwa Ben Jdila, Chahnez Triki, Bochra Ben Rhouma, Rihab Ben Jomaa, Abir Ben Issa, Leila Ammar-Keskes, Fatma Kamoun, Faiza Fakhfakh

Journal title: International Journal of Developmental Neuroscience

Journal number: 72

Journal publisher: Pergamon Press Ltd.

Published year: 2019

Published pages: 22-30

DOI identifier: 10.1016/j.ijdevneu.2018.09.006

ISSN: 0736-5748