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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
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This paper presents strong genetic data implicating a mutated ion channel gene in human epilepsy. The authors identified a novel potassium channel gene, KCNQ2, that is mutated in BFNCs (specifically EBN1: epilepsy benign neonatal 1)
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Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV et al.: A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. War Genef 1998, 18:25-29. This paper presents strong genetic data implicating a mutated ion channel gene in human epilepsy. The authors identified a novel potassium channel gene, KCNQ2, that is mutated in BFNCs (specifically EBN1: epilepsy benign neonatal 1).
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War Genef
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Singh, N.A.1
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DuPont, B.R.4
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Melis, R.6
Ronen, G.M.7
Bjerre, I.8
Quattlebaum, T.9
Murphy, J.V.10
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3
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0031974209
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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
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On the basis of the findings by Singh et al. [2••] and the presence of a second locus for BFNC (EBN2), the authors looked for a homologous gene to the BFNC (EBN1) potassium channel. This led to the discovery of a second, novel potassium channel involved in BFNC
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Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M: A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genef 1998, 18:53-55. On the basis of the findings by Singh et al. [2••] and the presence of a second locus for BFNC (EBN2), the authors looked for a homologous gene to the BFNC (EBN1) potassium channel. This led to the discovery of a second, novel potassium channel involved in BFNC.
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Nat Genef
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Charlier, C.1
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Leach, R.J.6
Leppert, M.7
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4
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0032536030
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A potassium channel mutation in neonatal human epilepsy
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This work further extends the findings presented in 2••1 and shows that in a large pedigree with BFNC (EBN1), the same potassium channel is mutated
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Bievert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK: A potassium channel mutation in neonatal human epilepsy. Science 1998, 279:403-406. This work further extends the findings presented in [2••1 and shows that in a large pedigree with BFNC (EBN1), the same potassium channel is mutated.
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Bievert, C.1
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5
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17344367657
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+ channel β1 subunit gene SCN1B
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This publication is the first example of a mutation in a sodium channel causing a disease of the human nervous system. This is also a first example of a disease resulting from a mutation in a regulatory β subunit. This paper further strengthens the theme that idiopathic epilepsies are a family of channelopathies
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+ channel β1 subunit gene SCN1B. Nat Genet 1998, 19:366-370. This publication is the first example of a mutation in a sodium channel causing a disease of the human nervous system. This is also a first example of a disease resulting from a mutation in a regulatory β subunit. This paper further strengthens the theme that idiopathic epilepsies are a family of channelopathies.
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Mulley, J.C.12
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17444444915
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A novel CMS gene required for neuronal migration and involved in X- Linked subcortical laminar heterotopia and lissencephaly syndrome
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des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrie A, Gelot A, Dupuis E, Motte J, Netter YB et al.: A novel CMS gene required for neuronal migration and involved in X- Linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998, 92:51-61.
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Netter, Y.B.10
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0032498306
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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
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Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA: Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998, 92:63-72.
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
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Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA et al.: Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998, 21:1315-1325.
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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
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Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CYG, Carpenter S et al.: Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet 1998, 20:171-174.
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Edited by Martin JB. New York City: Scientific American Press
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A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant frontal lobe epilepsy
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Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF: A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant frontal lobe epilepsy. Nat Gene 1995, 11:201-203.
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Knock-out mice reveal a critical antiepileptic role for neuropeptide Y
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Baraban SC, Hollopeter G, Erickson JG, Schwartzkroin PA, Palmiter RD: Knock-out mice reveal a critical antiepileptic role for neuropeptide Y. J Neurosci 1997, 17:8927-8936.
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0029024135
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Essential functions of synapsins I and II in synaptic vesicle regulation
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Rosahl TW, Spillane D, Missler M, Herz J, Selig DK, Wolff JR, Hammer RE, Malenka RC, Sudhof TC: Essential functions of synapsins I and II in synaptic vesicle regulation. Nature 1995, 375:488-493.
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Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1
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Tanaka K, Watase K, Manabe T, Yamada K, Watanabe M, Takahashi K, Iwama H, Nishikawa T, Ichihara N, Kikuchi T et al.: Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1. Science 1997, 276:1699-1702.
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Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6
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Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase
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Kash SF, Johnson RS, Tecott LH, Noebels JL, Mayfield RD, Hanahan D, Baekkeskov S: Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc Natl Acad Sci USA 1997, 94:14060-14065.
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Mice devoid of gamma-aminobutyrate type A receptor betas subunit have epilepsy, cleft palate, and hypersensitive behavior
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Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, Krasowski MD, Rick CE, Korpi ER, Makela R et al.: Mice devoid of gamma-aminobutyrate type A receptor betas subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci USA 1997, 94:4143-4148.
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Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice
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Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors
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Tecott RH, Sun LM, Akana SF, Strack AM, Lowenstein DH, Dallman MF, Julius D: Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors. Nature 1995, 374:542-546.
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v1.1 potassium channel causes epilepsy in mice
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This publication demonstrates that deletion of a potassium channel in mice leads to frequent spontaneous seizures throughout adult life. Mutations in the same gene in humans cause episodic ataxia/myokymia, but no seizures. This signifies the differences in the phenotype between humans and mice, possibly attributable to the nature of the mutation (or to species differences in its localization) or to expression or function of the potassium channel gene
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v1.1 potassium channel causes epilepsy in mice. Neuron 1998, 20:809-819. This publication demonstrates that deletion of a potassium channel in mice leads to frequent spontaneous seizures throughout adult life. Mutations in the same gene in humans cause episodic ataxia/myokymia, but no seizures. This signifies the differences in the phenotype between humans and mice, possibly attributable to the nature of the mutation (or to species differences in its localization) or to expression or function of the potassium channel gene.
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Seizures in transgenic mice associated with expression of a mutated sodium channel with altered inactivation kinetics
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Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor
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Matsumoto M, Nakagawa T, Inoue T, Nagata E, Tanaka K, Takano H, Minowa O, Kuno J, Sakakibara S, Yamada M et al.: Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor. Nature 1996, 379:168-171.
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Deficiency in protein L-isoaspartyl methyltransferase results in a fatal progressive epilepsy
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Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis
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Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice
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This paper reports an animal model of epilepsy created by targeting the gene implicated in Unverricht-Lundborg disease (EPM1), a progressive myoclonic epilepsy in humans. The animal phenotype parallels the human disease and demonstrates that EPM1 is a neurodegenerative disease and that cystatin B is necessary to prevent apoptosis in cerebellar granule cells
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