TY  - GEN
AU  - Delmiro,Aitor
AU  - Rivera,Henry
AU  - García-Silva,María Teresa
AU  - García-Consuegra,Inés
AU  - Martín-Hernández,Elena
AU  - Quijada-Fraile,Pilar
AU  - de Las Heras,Rogelio Simón
AU  - Moreno-Izquierdo,Ana
AU  - Martín,Miguel Ángel
AU  - Arenas,Joaquín
AU  - Martínez-Azorín,Francisco
TI  - Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome
SN  - 1098-1004
PY  - 2014///0616
KW  - Amino Acid Sequence
KW  - DNA Mutational Analysis
KW  - Exome
KW  - Female
KW  - Genetic Association Studies
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - genetics
KW  - Lennox Gastaut Syndrome
KW  - Molecular Sequence Data
KW  - Mutation
KW  - NADH Dehydrogenase
KW  - chemistry
KW  - Sequence Alignment
KW  - Spasms, Infantile
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.22445
ER  -