Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

• Published in: American journal of human genetics Vol. 91; no. 2; pp. 293 - 302
• Main Authors: Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Ruzzo, Elizabeth K., Walley, Nicole M., Need, Anna C., Ge, Dongliang, He, Min, Cirulli, Elizabeth T., Zhao, Qian, Cronin, Kenneth D., Gumbs, Curtis E., Campbell, C. Ryan, Hong, Linda K., Maia, Jessica M., Shianna, Kevin V., McCormack, Mark, Radtke, Rodney A., O'Conner, Gerard D., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Sinha, Saurabh R., Chinthapalli, Krishna, Puranam, Ram S., McNamara, James O., Ottman, Ruth, Sisodiya, Sanjay M., Delanty, Norman, Goldstein, David B.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 10.08.2012; Cell Press; Elsevier
• Subjects: Base Sequence; Biological and medical sciences; Comparative analysis; Epilepsy; Epilepsy, Generalized - genetics; Exome - genetics; Fundamental and applied biological sciences. Psychology; Genetic Predisposition to Disease - genetics; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Genomics; Genotype; Genotype & phenotype; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular Sequence Data; Nervous system (semeiology, syndromes); Neurology; Risk factors; Sequence Alignment; Sequence Analysis, DNA; White People - genetics; Europe; Nervous system diseases; Typing; Nucleotide sequence; Evaluation scale; Epilepsy; Idiopathic; Genotype; Generalized; Cerebral disorder; Variant; Central nervous system disease; Genetics; Sequencing

Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear whether variants with moderate effect size and fr...