Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

Helbig, Katherine L

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 09 2016 - 898-905 p. digital

Publication Type: Journal Article

1530-0366

10.1038/gim.2015.186 doi


Adolescent
Adult
Child
Child, Preschool
DNA-Binding Proteins--genetics
Dynamins
Epilepsy--diagnosis
Female
GTP Phosphohydrolases--genetics
Genetic Predisposition to Disease
Humans
Infant
Infant, Newborn
Male
Microtubule-Associated Proteins--genetics
Mitochondrial Proteins--genetics
Pathology, Molecular
Transcription Factors--genetics
Exome Sequencing--methods