TY  - GEN
AU  - Jdila,Marwa Ben
AU  - Triki,Chahnez
AU  - Rhouma,Bochra Ben
AU  - Jomaa,Rihab Ben
AU  - Issa,Abir Ben
AU  - Ammar-Keskes,Leila
AU  - Kamoun,Fatma
AU  - Fakhfakh,Faiza
TI  - A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation
SN  - 1873-474X
PY  - 2019///0403
KW  - Child
KW  - Computational Biology
KW  - DNA Mutational Analysis
KW  - Electroencephalography
KW  - Genetic Association Studies
KW  - Humans
KW  - Infant
KW  - Longitudinal Studies
KW  - Male
KW  - Mutation
KW  - genetics
KW  - Protein Serine-Threonine Kinases
KW  - Spasms, Infantile
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ijdevneu.2018.09.006
ER  -