article_metadata: 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
article_metadata: 10.1186/1471-2377-14-22
article_metadata: BMC Neurol
article_metadata: 2014 Jan 31;14:22.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24479948/
article_metadata: Epilepsy / diagnosis Epilepsy / genetics Exome / genetics Microcephaly / diagnosis Microcephaly / genetics Sequence Analysis, DNA / methods
article_metadata: 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
article_metadata: PMC3916514
article_metadata: 24479948
article_metadata: The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
article_metadata: 2014