Nucleic acids encoding sodium channel SCN1A alpha subunit...

Details Nucleic acids encoding sodium channel SCN1A alpha subunit... Nucleic acids encoding sodium channel SCN1A alpha subunit...

2003-09-17

2010-02-02

Kolker, Daniel E. (Department: 1649)

Chemistry: molecular biology and microbiology

Animal cell, per se ; composition thereof; process of...

C435S320100, C536S023500

Reexamination Certificate

active

07655460

ABSTRACT:
The present invention relates to epilepsy. More particularly, the present invention relates to idiopathic generalized epilepsy (IGE) and to the identification of three genes mapping to chromosome 2, which show mutations in patients with epilepsy. The invention further relates to nucleic acid sequences, and protein sequences of these loci (SCNA) and to the use thereof to assess, diagnose, prognose or treat epilepsy, to predict an epileptic individual's response to medication and to identify agents which modulate the function of the SCNA. The invention also provides screening assays using SCN1A, SCN2A and/or SCN3A which can identify compounds which have therapeutic benefit for epilepsy and related neurological disorders.

REFERENCES:
patent: 5223409 (1993-06-01), Ladner et al.
patent: 6110672 (2000-08-01), Mandel et al.
patent: 6673549 (2004-01-01), Furness et al.
patent: 7078515 (2006-07-01), Wallace et al.
patent: 96/14077 (1996-05-01), None
patent: 97/01577 (1997-01-01), None
patent: WO 99/21875 (1999-05-01), None
Rudinger, in “Peptide Hormones” (ed., J.A. Parsons) University Park Press, Baltimore, pp. 1-7 (1976).
Noda 1986. Nature 320:188-192.
Sequence alignment for NCBI Accession No. X03638.
Wang 1997. J Clin Invest 99:1714-1720.
Sequence alignment for US 6,110,672 sequence 14.
Stratagene Catalog 1991, p. 66.
Current Protocols in Molecular Biology (1989-1996), pp. 6.0.3-6.0.5, 6.1.1-6.1.4, 6.3.1-6.3.6, and 6.5.1-6.5.2.
Ahmed et al., “Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain,” Proc. Natl. Acad. Sci. USA, 89:8220-8224, 1992.
Lu and Brown, “Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III α-subunit,” J. Mol. Neuro., 10:67-70, 1998.
Andermann, E., Genetic Basis of the Epilepsies, Raven Press, New York, pp. 355-374, 1982.
Anderson et al., “Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines,” In Vitro, 20:856-858, 1984.
Annegers et al., Genetic Basis of the Epilepsies, Raven Press, New York, pp. 151-159, 1982.
Baker et al., “Cell proloferation kinetics of normal and tumor tissue in vitro: quiescent reproductive cells and the cycling reproductive fraction,”Cell Prolif., 28:1-15, 1995.
Barker et al., “GABA actions on the excitability of cultured CNS neurons ,”Neurosci. Lett., 47:313-318, 1984.
Bar-Sagi et al., “Negative modulation of sodium channels in cultured chick muscle cells by the channel activator batrachotoxin,”J. Biol. Chem., 260:4740-4744, 1985.
Baulac et al., “A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33,”Am. J. Hum. Genet., 65:1078-1085, 1999.
Baunoch et al., “R-ELISA: repeated use of antigen-coated plates for ELISA and its application for testing of antibodies to HIV and other pathogens,”Biotechniques, 12:412-417, 1992.
Berkovic et al., “Epilepsies in twins: genetics of the major epilepsy syndromes,”Ann. Neurol., 43:435-445, 1998.
Biervert et al., “A potassium channel mutation in neonatal human epilepsy,”Science, 279:403-406, 1998.
Bu et al., “The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 and GAD65) suggests that they derive from a common ancestral GAD,”Genomics, 21:222-228, 1994.
Cardell et al., Agnew. Chem. Int. Ed. Engl., 33:2061-2063, 1994.
Charlier et al., “A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family,”Nat. Genet, 18:53-55, 1998.
Cheviron et al., “The antiproliferative activity of the tetrapeptide Acetyl-N-SerAspLysPro, an inhibitor of haematopoietic stem cell proliferation, is not mediated by a thymosin beta 4-like effect on actin assembly,”Cell Prolif., 29:437-446, 1996.
Chia et al., “Cytoskeletal association of an esterase inDictyostelium discoideum,” Exp.Cell Res., 244:340-348, 1998.
Cho et al., “An Unnatural Biopolymer,”Science, 261:1303-1305, 1993.
Clare et al., “Voltage-gated sodium channels as therapeutic targets,”Drug Discovery Today, 5:506-520, 2000.
Corey et al., “The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins,”Neurology, 41:1433:1436, 1991.
Cull et al., “Screening for receptor ligands using large libraries of peptides linked to the C terminus of the lac repressor,”Proc. Natl. Acad. Sci. USA, 89:1865-1869, 1992.
Denyer et al., “HTS approaches to voltage-gated ion channel drug discovery,”Drug Discovery Today, 3:323-332, 1998.
DeWitt et al., ““Diversomers”: an approach to nonpeptide, nonoligomeric chemical diversity,”Proc. Natl. Acad. Sci. USA, 90:6909-6913, 1993.
Elliot et al., “Bin1 functionally interacts with Myc and inhibits cell proliferation via multiple mechanisms,”Oncogene, 18:3564-3573, 1999.
Elmslie et al., “Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q,”Hum. Mol. Genet.,6:1329-1334, 1997.
Engel et al., Epilepsy: A Comprehensive Textbook, Lippincott-Raven, Phildelphia, 1-7 (1), 1997.
Erb et al., “Recursive deconvolution of combinatorial chemical libraries,”Proc. Natl. Acad. Sci, USA, 91:11422-11426, 1994.
Escayg et al., “Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+,”Nat. Genet., 24:343-345, 2000.
Fodor et al., “Multiplexed biochemical assays with biological chips,”Nature, 364:555-556, 1993.
Gallop et al., “Applications of combinatorial technologies to drug discovery. 1. Background and peptide combinatorial libraries,”J. Med. Chem., 37:1233-1251, 1994.
Gonzalez et al., “Cell-based assays and instrumentation for screening ion-channel targets,”Drug Discovery Today, 4:431-439, 1999.
Gonzalez et al., “Modification of tau to an Alzheimer's type protein interferes with its interaction with microtubules,”Cell. Mol. Biol., 44:1117-1127, 1998.
Greenberg et al., “Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6,”Am. J. Med. Genet., 31:185-192, 1988.
Guipponi et al., “Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q,”Hum. Mol. Genet., 6:473-477, 1997.
Gyapay et al., “The 1993-94 Genethon human genetic linkage map,”Nat Genet. 7:246-339, 1994.
Hamill et al., “Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches,”PflÜgers Archiv., 391:85-100, 1981.
Hu et al., “alpha1-Adrenergic receptor stimulation of mitogenesis in human vascular smooth muscle cells: role of tyrosine protein kinases and calcium in activation of mitogen-activated protein kinase,”Journ. Pharmacology Experimental therapeutics, 290:28-37, 1999.
Kawai et al., “Death-associated protein kinase 2 is a new calcium/calmodulin-dependent protein kinase that signals apoptosis through its catalytic activity,”Oncogene, 18:3471-3480, 1999.
Komada et al., “Hrs, a FYVE finger protein localized to early endosomes, is implicated in vesicular traffic and required for ventral folding morphogenesis,”Genes&Dev., 13:1475-1485, 1999.
Lam et al., “A new type of synthetic peptide library for identifying ligand-binding activity,”Nature, 354:82-84, 1991.
Lam, K.S., “Application of combinatorial library methods in cancer research and drug discovery,”Anti-Cancer Drug Design, 12:145-167, 1997.
Lanthrop et al., “Easy calculations of lod scores and genetic risks on small computers,”Am. J. Genet., 36:460-465, 1984.
Lennox et al., Epilepsy and related disorders, Little Brown, pp. 532-574, 1960.
Leppert et al., “Benign familial neonatal convulsions linked to genetic marke

Affiliated with

Also associated with

Rating

Nucleic acids encoding sodium channel SCN1A alpha subunit... does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Nucleic acids encoding sodium channel SCN1A alpha subunit..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Nucleic acids encoding sodium channel SCN1A alpha subunit... will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-4161053