Mutation associated with epilepsy

Details Mutation associated with epilepsy Mutation associated with epilepsy

2007-01-02

2007-01-02

Ulm, John (Department: 1649)

Organic compounds -- part of the class 532-570 series

Organic compounds

Carbohydrates or derivatives

C435S006120, C435S069100, C435S252300, C435S320100

Reexamination Certificate

active

10312184

ABSTRACT:
An isolated mammalian DNA molecule encoding a mutant γ-aminobutyric acid (GABA) receptor subunit, wherein a mutation event selected from the group consisting of point mutations, deletions, insertions and rearrangements has occurred and said mutation event disrupts the functioning of an assembled GABA receptor, or an otherwise functional fragment or homologue thereof.

REFERENCES:
patent: 5654172 (1997-08-01), Li et al.
Mohler, Genetic Approaches to CNS Disorderes with Particular Reference to GAGAA-Receptor Mutations, J. of Receptor & Signal Transduction Research 17(1-3):1-10, 1997.
Pritchett et al.Importance of a novel GABAAreceptor subunit for benzodiazepine pharmacology, Nature338:582-585 (Apr. 13, 1989).
Horlick et al.,Cominatorial gene expression using multiple episomal vectors, Gene243:187-194 (2000).
Shivers et al.,Two Novel GABAAReceptor Subunits Exist in Distinct Neuronal Subpopulations, Neuron3:327-337 (Sep. 1989).
Jiang et al.,Complete Genomic Sequence of 195 Kb of Human DNA Containing the Gene GABRG2, DNA Sequence11:373-382 (2000).
Baulac et al.,First genetic evidence of GABAAreceptor dysfunction in epilepsy: a mutation in the γ2-subunit gene, Nature Genetics28:46-48 (May 2001).
Wallace et al.,Mutant GABAAreceptor γ2-subunit in childhood absence epilepsy and febrile seizures, Nature Genetics28:49-52 (May 2001).
Oru{hacek over (c)} et al.,Positive Association between the GABRA5 Gene and Unipolar Recurrent Major Depression, Neuropsychobiology36:62-64 (1997),
Annegers, Chapter 11:The Epidemiology of Epilepsy, The Treatment of Epilepsy: Principles and Practice2ndEd. pp. 165-172 (1996).
Berkovic et al.,Concepts of absence epilepsies: Discrete syndromes or biological continuum?, Neurology37, No. 6:993-1000 (Jun. 1987).
Berkovic et al., Chapter 5:The epilepsies: specific syndromes or a neurobiological continuum?, Epileptic Seizures and Syndromespp. 25-37 (1994).
Biervert et al.,A Potassium Channel Mutation in Neonatal Human Epilepsy, Science279:403-406 (Jan. 16, 1998).
Blasi,Influence of Benzodiazepines on Body Weight and Food Intake in Obese and Lean Zucker Rats, Prog. Neuro-Psychoparmacol.&Biol. Psychiat. 24:561-577 (2000).
Brooks-Kayal et al.,Developmental Changes in Human γ-Aminobutric AcidAReceptor Subunit Composition, Annals of Neurology34, No. 5:687-693 (Nov. 1993).
Charlier et al.,A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family, Nature Genetics18:53-55 (Jan. 1998).
Commision on Classification and Teminology of the International League Against Epilepsy,Proposal for Revised Classification of Epilepsies and Epileptic Syndromes, Epilepsia30(4):389-399 (1989).
Destexhe,Can GABAAconductances explain the fast oscillation frequency of absence seizures in rodents?, European J. of Neuroscience11:2175-2181 (1999).
Draguhn et al.,Functional and Molecular Distinction between Recombinant Rat GABAAReceptor Subtypes by Zn2+,Neuron5:781-788 (1990).
Feucht et al.,Possible Association between Childhood Absence Epilepsy and the Gene Encoding GABRB3, Biol. Psychiatry 46:997-1002 (1999).
Futatsugi et al.,Mechanisms of generalized absence epilepsy, Brain & Development20:75-79 (1998).
Gardiner,Impact of our understanding of the genetic aetiology of epilepsy, J. Neurol247:327-334 (2000).
Gerner et al.,CSF GABA in Normal Subjects and Patients with Depression, Schizophrenia, Mania, and Anorexia Nervosa, Am J. Psychiatry138, 8:1098-1101 (Aug. 1981).
Jackson,Ligant-gated Channel: Postsynaptic Receptors and Drug Targets, Chapter 32: Jasper's Basic Mechanisms of the Epilepsies(3rded. ): Advances in Neurology 79:511-524 (1999).
Kucken et al.,Identification of Benzodiazepine Binding Site Residues in the γ2 Subunit of the γ-Aminobutyric AcidAReceptor, MOL57:932-939 (2000).
Limmroth et al.,GABAA-receptor-mediated effects of progesterone, its ring-A-reduce metabolites and synthetic neuroactive steroids on neurogenic oedema in the rat meninges, British J. of Pharmacology117:99-104 (1996).
Mitsikostas et al.,Receptor systems mediating c-fos expression within trigeminal nucleus caudalis in animal models of migraine, Brain Research Reviews35:20-35 (2001).
Olsen et al.,GABA Receptor Function and Epilepsy, Chapter 31, Jasper's Basic Mechanisms of the Epilepsies (3rdEd.): Advances in Neurology79:499-510 (1999).
Papadimitriou et al.,Association Between the GABAAReceptor α5Subunit Gene Locus(GABRA5)AND Bipolar Affective Disorder, American J. of Medical Genetics(Neuropsychiatric Genetics) 81:73-80 (1998).
Pearlson et al.,Neurobiology of Schizophrenia, Annals of Neurology48(4):556-566 (Oct. 2000).
Reutens et al.,Idiopathic generalized epilepsy of adolescence: Are the syndromes clinically distinct?, Neurology45:1469-1476 (Aug. 1995).
Scheffer et al.,Generalized epilepsy with febrile seizures plus a genetic disorder with heterogeneous clinical phenotypes, Brain120:479-490 (1997).
Sibille et al.,Genetic Inactivation of the Serotonin1AReceptor in Mice Results in Downregulation of Major GABAAReceptor α Subunits, Reduction of GABAAReceptor Binding, and Benzodiazepine-Resistant Anxiety, The J. of Neuroscience20(8):2458-2765 (Apr. 15, 2000).
Sigel et al.,The benzodiazepine binding site of GABAAreceptors, TiPS18:425-429 (Nov. 1997).
Singh et al.,A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns, Nature Genetics18:25-29 (Jan. 1998).
Singh et al.,Generalized Epilepsy with Febrile Seizures Plus: A Common Childhood-Onset Genetic Epilepsy Syndrome, Annals of Neurology45(1):75-91 (Jan. 1999).
Vergnes et al.,Selective Susceptibility in Ihibitors of GABA Synthesis and Antagonists of GABAAReceptor in Rats with Genetic Absence Epilepsy, Experimental Neurology161:714-723 (2000).
Wallace et al.,Febrile seizures and generalized epilepsy associated with a mutation in the Na°-channel β1 subunit gene SCN1B, Nature Genetics19:366-370 (Aug. 1998).
Wallace et al.,Mutant GABAAreceptor γ2-subunit in childhood absence epilepsy and febrile seizures, Nature Genetics28:49-52 (May 2001).
Mizukami et al.,GABAAreceptor β2 and β3 subunits mRNA in the hippocampal formation of aged human brain with Alzheimer-related neuropathology,Molecular Brain Research56:268-272 (1998).
Mizukami et al.,Immunohistochemical study of GABAAreceptor α1 subunit in the hippocampal formation of aged brains with Alzheimer-related neurophathlogic changes, Brain Research299:148-155 (1998).
Buhr and Sigel,A point mutation in the γ2subunit of γ-aminobutyric acid type A receptors results in altered benzodiazepine binding site specificity, Proc. Natl. Acad. Sci. USA94:8824-8829 (Aug. 1997).
Carlson et al.,A Single Gylcine Residue at the Entrance to the First Membrane-Spanning Domain of the γ-Aminobutyric Acid Type A Receptor β2Subunit Affects Allosteric Sensitivity to GABA and Anesthetics, Molecular Pharmacology57:474-484 (2000).
Chang and Weiss,Allosteric Activation Mechanism of the α1β2 γ2 γ-Aminobutyric Acid Type A Receptor Revealed by Mutation of the Conserved M2 Leucine, Biophysical Journal77:2542-2551 (Nov. 1999).
Supplementary European Search Report for PCB/P04121PEP dated Oct. 12, 2004.
Database UNIPROT Nov. 1, 1990 “Protein GAC213Human” XP002296405 retrieved from EBI databases accession No. P18507 Q9UN15.
Database UNIPROT Jul. 15, 1998 “GAD13Human” XP002296406 retrieved from EBI database accession No. 014764.
Korpi et al. Benzodiazepine-induced motor impairment linked to point mutation in cerebellar GABA-A receptor Nature 361:356-359 (1993).
Delorey et al., “Mice Lacking the β 3 Subunit of the GABA A Receptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome”,The Journal of Neuroscience, 18(20):8505-8514, Oct. 1998.

Affiliated with

Also associated with

Rating

Mutation associated with epilepsy does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Mutation associated with epilepsy, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Mutation associated with epilepsy will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-3788406