Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.

Delmiro, Aitor

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. [electronic resource] - Human mutation Dec 2013 - 1623-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.22445 doi


Amino Acid Sequence
DNA Mutational Analysis
Exome
Female
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans
Infant
Intellectual Disability--genetics
Lennox Gastaut Syndrome
Molecular Sequence Data
Mutation
NADH Dehydrogenase--chemistry
Sequence Alignment
Spasms, Infantile--genetics