Laura M McDonell Jodi Warman Chardon Jeremy Schwartzentruber Denise Foster Chandree L Beaulieu FORGE Canada Consortium Jacek Majewski Dennis E Bulman Kym M Boycott K Boycott J Friedman J Michaud F Bernier M Brudno B Fernandez B Knoppers M Samuels S Scherer
10.1186/1471-2377-14-22
BMC Neurol
2014 Jan 31;14:22.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24479948/
Epilepsy / diagnosis Epilepsy / genetics Exome / genetics Microcephaly / diagnosis Microcephaly / genetics Sequence Analysis, DNA / methods
Epilepsy / diagnosis Epilepsy / genetics Exome / genetics Microcephaly / diagnosis Microcephaly / genetics Sequence Analysis, DNA / methods Case Reports Research Support, Non-U.S. Gov't Female Genetic Testing / methods Humans Male Middle Aged Pedigree Syndrome
PMC3916514
24479948
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
2014