Journal ArticleDOI
Seizure disorders in mutant mice: relevance to human epilepsies.
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TLDR
These discoveries promise to shed light on the mechanisms underlying genetic control of neuronal excitability, suggest candidate genes underlying genetic forms of human epilepsy, and provide a valuable model with which to elucidate how the genotype produces the phenotype of a rare form of human epileptogenesis.About:
This article is published in Current Opinion in Neurobiology.The article was published on 1999-06-01. It has received 62 citations till now. The article focuses on the topics: Epilepsy & Positional cloning.read more
Citations
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Journal ArticleDOI
Emerging insights into the genesis of epilepsy.
TL;DR: Emerging insights point to alterations of synaptic function and intrinsic properties of neurons as common mechanisms underlying the hyperexcitability in diverse forms of epilepsy.
Journal ArticleDOI
Different presynaptic roles of synapsins at excitatory and inhibitory synapses.
Daniel Gitler,Yoshiko Takagishi,Jian Feng,Yong Ren,Ramona M. Rodriguiz,William C. Wetsel,Paul Greengard,George J Augustine +7 more
TL;DR: Examination of the phenotype of mice in which all three synapsin genes were knocked out suggested that synapsins regulate the reserve pool of synaptic vesicles, and basal transmission at inhibitory synapses was reduced by loss ofsynapsins, but the kinetics of synaptic depression were unaffected.
Journal ArticleDOI
Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the Cacna2d2 Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells
Jane Barclay,N Balaguero,Marina Mione,Susan L. Ackerman,Verity A. Letts,Jens Brodbeck,C Canti,Alon Meir,Karen M. Page,Kenro Kusumi,Edward Perez-Reyes,Eric S. Lander,Wayne N. Frankel,RM Gardiner,Annette C. Dolphin,M Rees +15 more
TL;DR: These observations document the first mammalian α2δ mutation and complete the association of each of the major classes of voltage-dependent Ca2+ channel subunits with a phenotype of ataxia and epilepsy in the mouse.
Journal ArticleDOI
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice
Praveena Gupta,Abigail A. Soyombo,Armita Atashband,Krystyna E. Wisniewski,John M. Shelton,James A. Richardson,Robert E. Hammer,Robert E. Hammer,Sandra L. Hofmann +8 more
TL;DR: These studies provide a mouse model for infantile neuronal ceroid lipofuscinosis and further suggest that PPT2 serves a role in the brain that is not carried out by PPT1.
Journal ArticleDOI
Cellular mechanisms underlying acquired epilepsy: the calcium hypothesis of the induction and maintainance of epilepsy.
TL;DR: Recent studies have offered new insights into the cause of AE and indicate that injury-induced alterations in intracellular calcium concentration levels [Ca(2+)](i) and calcium homeostatic mechanisms play a role in the development and maintenance of AE.
References
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Journal ArticleDOI
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
Laura Mangiarini,Kirupa Sathasivam,Mary J. Seller,Barbara A. Cozens,Alex Harper,Colin Hetherington,Martin Lawton,Yvon Trottier,Hans Lehrach,Stephen W. Davies,Gillian P. Bates +10 more
TL;DR: Mice have been generated that are transgenic for the 5' end of the human HD gene carrying CAG/polyglutamine repeat expansion that exhibits many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures.
Journal ArticleDOI
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
Roel A. Ophoff,Gisela M. Terwindt,Monique N. Vergouwe,Ronald van Eijk,Peter J. Oefner,Susan M.G. Hoffman,Jane Lamerdin,Harvey W. Mohrenweiser,Dennis E. Bulman,Maurizio Ferrari,Joost Haan,Dick Lindhout,Gert-Jan B. van Ommen,Marten H. Hofker,Michel D. Ferrari,Rune R. Frants +15 more
TL;DR: A brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons is characterized, revealing polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG) n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2.
Journal ArticleDOI
Epilepsy and Exacerbation of Brain Injury in Mice Lacking the Glutamate Transporter GLT-1
Kohichi Tanaka,Kei Watase,Toshiya Manabe,Keiko Yamada,Masahiko Watanabe,Katsunobu Takahashi,Hisayuki Iwama,Toru Nishikawa,Nobutsune Ichihara,Tateki Kikuchi,Shigeru Okuyama,Naoya Kawashima,Seiji Hori,Misato Takimoto,Keiji Wada +14 more
TL;DR: Homozygous mice deficient in GLT-1, a widely distributed astrocytic glutamate transporter, show lethal spontaneous seizures and increased susceptibility to acute cortical injury, which can be attributed to elevated levels of residual glutamate in the brains of these mice.
Journal ArticleDOI
Eating disorder and epilepsy in mice lacking 5-HT2C serotonin receptors
Laurence H. Tecott,Linda M. Sun,Susan F. Akana,A. M. Strack,Daniel H. Lowenstein,Mary F. Dallman,David Julius +6 more
TL;DR: It is shown that 5-HT2C receptor-deficient mice are overweight as a result of abnormal control of feeding behaviour, establishing a role for this receptor in the serotonergic control of appetite.
Journal ArticleDOI
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
Nanda A. Singh,Carole Charlier,Dora Stauffer,Barbara R. DuPont,Robin J. Leach,Roberta Melis,Gabriel M. Ronen,I. Bjerre,Thomas G. Quattlebaum,J. V. Murphy,M. L. McHarg,David R. Gagnon,T. O. Rosales,Andy Peiffer,V. E. Anderson,Mark Leppert +15 more
TL;DR: A sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family is identified, identifying one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels.
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Christian Biervert,Björn C. Schroeder,Björn C. Schroeder,Björn C. Schroeder,Christian Kubisch,Christian Kubisch,Christian Kubisch,Samuel F. Berkovic,Samuel F. Berkovic,Samuel F. Berkovic,Peter Propping,Peter Propping,Peter Propping,Thomas J. Jentsch,Thomas J. Jentsch,Thomas J. Jentsch,Ortrud K. Steinlein,Ortrud K. Steinlein,Ortrud K. Steinlein +18 more