Epilepsy genes: the link between molecular dysfunction and pathophysiology

Mental Retardation and Developmental Disabilities Research Reviews
C E Stafstrom, B L Tempel


Our understanding of the genetic basis of epilepsy is progressing at a rapid pace. Gene mutations causing several of the inherited epilepsies have been mapped, and several more are likely to be added in coming years. In this review, we summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, emphasizing how genetic defects may correlate with the pathophysiological mechanisms of brain hyperexcitability. Mutations leading to epilepsy have been identified in genes encoding voltage- and ligand-gated ion channels (benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, generalized epilepsy with febrile seizures "plus"), neurotransmitter receptors (Angelman syndrome), the molecular cascade of cellular energy production (myoclonic epilepsy with ragged red fibers), and proteins without a known role in neuronal excitability (Unverricht-Lundborg disease). Gene defects can lead to epilepsy by altering multiple and diverse aspects of neuronal function.


Sep 19, 2003·Lancet·Christopher Gillberg, Henrik Soderstrom
Sep 26, 2003·The New England Journal of Medicine·Bernard S Chang, Daniel H Lowenstein
Dec 4, 2004·Clinical Chemistry and Laboratory Medicine : CCLM·Hugo M NeelsWilly E Lambert
Dec 7, 2011·Journal of Intellectual Disability Research : JIDR·H T T Leung, H Ring
Nov 9, 2001·Annual Review of Genetics·M H MeislerA Escayg
Apr 17, 2013·Evidence-based Complementary and Alternative Medicine : ECAM·Xuezhi KangYing Xia


Jul 16, 1991·Brain Research. Developmental Brain Research·T Z Baram, L Schultz
Jun 1, 1988·European Journal of Pediatrics·S G BoydM A Patton
Nov 15, 1973·The Journal of Comparative Neurology·P Rakic, R L Sidman
Jan 1, 1995·Annual Review of Biochemistry·W A Catterall
Feb 1, 1995·Brain : a Journal of Neurology·I E SchefferF Cendes
Dec 1, 1993·Annals of Neurology·E HirschC Marescaux
Jan 1, 1994·Epilepsia·D C WallaceS Ballinger
Jan 1, 1993·Epilepsia·S F BerkovicF Andermann
Jan 1, 1993·Archives françaises de pédiatrie·C MamíM Gemelli
Nov 1, 1995·Journal of Child Neurology·F VianiV Briscioli
May 2, 1996·Nature·J Empson
May 2, 1996·Nature·J O McNamara, R S Puranam
Apr 1, 1996·Journal of Medical Genetics·R H WallaceJ C Mulley
Feb 1, 1996·Neuron·J Noebels
Jan 1, 1997·Nature Genetics·T KishinoJ Wagstaff
Feb 1, 1997·Trends in Neurosciences·S Wonnacott
Feb 18, 1997·Proceedings of the National Academy of Sciences of the United States of America·C S HoR H Joho
Feb 1, 1997·Epilepsia·L A LaanO F Brouwer
Jan 1, 1997·Brain & Development·S F Berkovic, I E Scheffer
Jan 1, 1997·Annual Review of Physiology·N V Marrion
Apr 15, 1997·Proceedings of the National Academy of Sciences of the United States of America·G E HomanicsR W Olsen
Mar 1, 1997·Brain : a Journal of Neurology·I E Scheffer, S F Berkovic
Apr 1, 1997·Current Opinion in Neurology·S F Berkovic, I E Scheffer
Jul 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·B M CattanachJ Jones
Sep 2, 1997·Proceedings of the National Academy of Sciences of the United States of America·Y LuoV M Ingram

Related Concepts

Familial Progressive Myoclonic Epilepsy
Epilepsies, Myoclonic
Epilepsy, Generalized
Energy Metabolism
Reinforcing Factors
Merrf Syndrome
Gene Mutation

Related Feeds

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.