title: Epilepsy genetics--past, present, and future.
abstract: Human epilepsy is a common and heterogeneous condition in which genetics play an important etiological role. We begin by reviewing the past history of epilepsy genetics, a field that has traditionally included studies of pedigrees with epilepsy caused by defects in ion channels and neurotransmitters. We highlight important recent discoveries that have expanded the field beyond the realm of channels and neurotransmitters and that have challenged the notion that single genes produce single disorders. Finally, we project toward an exciting future for epilepsy genetics as large-scale collaborative phenotyping studies come face to face with new technologies in genomic medicine.
authors.affiliation: Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Children's Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Fegan 9, Boston, MA 02115, United States. annapuma.poduri@childrens.harvard.edu
authors.forename: Annapurna
authors.initials: A
authors.lastname: Poduri
authors.forename: Daniel
authors.initials: D
authors.lastname: Lowenstein
mesh_terms: D015820:Cadherins / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002869:Chromosome Aberrations; D004827:Epilepsy / Q000235:genetics*; D020690:GTPase-Activating Proteins; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D056914:Genomic Structural Variation / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D051938:Munc18 Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D000091363:Protocadherins
chemical_list: C467202:ASPM protein, human; D015820:Cadherins; D002352:Carrier Proteins; D020690:GTPase-Activating Proteins; D008565:Membrane Proteins; D051938:Munc18 Proteins; D009419:Nerve Tissue Proteins; C438605:PCDH19 protein, human; D000091363:Protocadherins; C497937:STXBP1 protein, human; C552551:TBC1D24 protein, human