Provider: Nature Publishing Group Content: application/x-research-info-systems TY - JOUR AU - Pennachio, L.A. TI - Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) JO - Science PY - 1996/// VL - 271 SP - 1731 EP - 1733 ER - TY - JOUR AU - Turk, V. AU - Bode, W. TI - The cystatins: Protein inhibitors of cysteine proteinases JO - FEHS Lett. PY - 1991/// VL - 285 SP - 213 EP - 219 M3 - 10.1016/0014-5793(91)80804-C N1 - 10.1016/0014-5793(91)80804-C UR - http://dx.doi.org/10.1016/0014-5793(91)80804-C ER - TY - JOUR AU - Steinlein, O.K. TI - A missense mutation in the neuronal nicotinic acetylcholine receptor u4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy JO - Nature Genet. PY - 1995/// VL - 11 SP - 201 EP - 203 M3 - 10.1038/ng1095-201 N1 - 10.1038/ng1095-201 UR - http://dx.doi.org/10.1038/ng1095-201 ER - TY - JOUR AU - Beck, C. TI - A nonsense mutation in the ot-4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBN1) JO - Neurobiol Dis. PY - 1994/// VL - 1 SP - 95 EP - 99 M3 - 10.1006/nbdi.1994.0012 N1 - 10.1006/nbdi.1994.0012 UR - http://dx.doi.org/10.1006/nbdi.1994.0012 ER - TY - JOUR AU - Shiang, R. TI - Mutations in the ral subunit of the inhibitory glycine receptor cause the dominant neurological disorder, hyperekplexia JO - Nature Genet. PY - 1993/// VL - 5 SP - 351 EP - 358 M3 - 10.1038/ng1293-351 N1 - 10.1038/ng1293-351 UR - http://dx.doi.org/10.1038/ng1293-351 ER - TY - JOUR AU - Ryan, S.G. TI - A missense mutation in the gene encoding the al subunit of the inhibitory glycine receptor in the spasmodic mouse JO - Nature Genet. PY - 1994/// VL - 7 SP - 131 EP - 135 M3 - 10.1038/ng0694-131 N1 - 10.1038/ng0694-131 UR - http://dx.doi.org/10.1038/ng0694-131 ER - TY - JOUR AU - Rosahl, T.W. TI - Essential functions of synapsins I and II in synaptic vesicle regulation JO - Nature PY - 1995/// VL - 375 SP - 488 EP - 493 M3 - 10.1038/375488a0 N1 - 10.1038/375488a0 UR - http://dx.doi.org/10.1038/375488a0 ER - TY - JOUR AU - Li, L. TI - Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice JO - Proc. Natl. Acad. Sci. USA PY - 1995/// VL - 92 SP - 9235 EP - 9239 ER - TY - JOUR AU - Ferreira, A. TI - Suppression of synapsin II inhibits the formation and maintenance of synapses in hippocampal culture JO - Proc. Natl. Acad. Sci. USA PY - 1995/// VL - 92 SP - 9225 EP - 9229 ER - TY - JOUR AU - Pieribone, V.A. TI - Distinct pools of synaptic vesicles in neurotransmitter release JO - Nature PY - 1995/// VL - 375 SP - 493 EP - 497 M3 - 10.1038/375493a0 N1 - 10.1038/375493a0 UR - http://dx.doi.org/10.1038/375493a0 ER - TY - JOUR AU - Butler, L.S. TI - Limbic epilepsy in transgenic mice carrying a Ca2+calmodulin-dependent kinase II a-subunit mutation JO - Proc. Natl. Acad. Sci. USA PY - 1995/// VL - 92 SP - 6852 EP - 6855 ER - TY - JOUR AU - Waymire, K.G. TI - Mice lacking tissue nonspecific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6 JO - Nature Genet. PY - 1995/// VL - 11 SP - 45 EP - 51 M3 - 10.1038/ng0995-45 N1 - 10.1038/ng0995-45 UR - http://dx.doi.org/10.1038/ng0995-45 ER - TY - JOUR AU - Ryan, S.G. TI - Partial epilepsy: Chinks in the armour JO - Nature Genet. PY - 1995/// VL - 10 SP - 4 EP - 6 M3 - 10.1038/ng0595-4 N1 - 10.1038/ng0595-4 UR - http://dx.doi.org/10.1038/ng0595-4 ER - TY - JOUR AU - Zara, F. TI - Mapping of genes predisposing to idiopathic generalized epilepsy JO - Hum. MoJ. Genet. PY - 1995/// VL - 4 SP - 1201 EP - 1207 ER - TY - JOUR AU - Steinlein, O. TI - Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor a4 subunit (CHKNA4) to human chromosome 20ql3.2-ql3.3 JO - Genomics PY - 1994/// VL - 22 SP - 493 EP - 495 M3 - 10.1006/geno.1994.1420 N1 - 10.1006/geno.1994.1420 UR - http://dx.doi.org/10.1006/geno.1994.1420 ER - TY - JOUR AU - Tahvanainen, E. TI - The gene for a reces-sively inherited human childhood progressive epilepsy with mental retardation maps to the short arm of chromosome 8 JO - Proc. Natl. Acad. Sci. USA PY - /// VL - 91 SP - 7267 EP - 7267 ER - TY - JOUR TI - Isolation of a novel gene underlying Batten disease, CLN3 JO - Cell PY - 1995/// VL - 82 SP - 949 EP - 957 ER - TY - JOUR AU - Serratosa, J.M. TI - The gene for progressive myoclonus epilepsy of the I.afora type maps to chromosome 6q JO - Hum. Mol. Genet. PY - 1995/// VL - 4 SP - 1657 EP - 1663 ER - TY - JOUR AU - Eksioglu, Y.Z. TI - Periventricular hetero-topia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development JO - Neuron PY - 1996/// VL - 16 SP - 77 EP - 87 M3 - 10.1016/S0896-6273(00)80025-2 N1 - 10.1016/S0896-6273(00)80025-2 UR - http://dx.doi.org/10.1016/S0896-6273(00)80025-2 ER -