TY  - GEN
AU  - Allou,L
AU  - Julia,S
AU  - Amsallem,D
AU  - El Chehadeh,S
AU  - Lambert,L
AU  - Thevenon,J
AU  - Duffourd,Y
AU  - Saunier,A
AU  - Bouquet,P
AU  - Pere,S
AU  - Moustaïne,A
AU  - Ruaud,L
AU  - Roth,V
AU  - Jonveaux,P
AU  - Philippe,C
TI  - Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease
SN  - 1399-0004
PY  - 2017///0630
KW  - Adolescent
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Exome
KW  - genetics
KW  - Female
KW  - Genetic Heterogeneity
KW  - Guanine Nucleotide Exchange Factors
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Kv1.2 Potassium Channel
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Protein Serine-Threonine Kinases
KW  - Rett Syndrome
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1111/cge.12784
ER  -