Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives
Reexamination Certificate
2006-07-18
2006-07-18
Andres, Janet L. (Department: 1649)
Organic compounds -- part of the class 532-570 series
Organic compounds
Carbohydrates or derivatives
C530S350000, C435S320100, C435S069100, C435S252100, C435S325000
Reexamination Certificate
active
07078515
ABSTRACT:
The mutations D188V, V1353L, I1656M in the neuronal gene sodium-channel alpha1-subunit, SCN1A, are disclosed. The methods of using their associated polypeptides for treating sodium channel dysfunction disorders including generalized epilepsy are also disclosed.
REFERENCES:
patent: 2003/0157525 (2003-08-01), Mintier et al.
patent: 2004/0214195 (2004-10-01), Rouleau
patent: 2004/0229257 (2004-11-01), Petrou et al.
patent: 2001 18465 (2000-11-01), None
Lerche H, Jurkat-Rott K, Lehmann-Horn F. 2001. Ion channels and epilepsy.Am J Med Genet. 106(2):146-59.
Lason W. 2001. Neurochemical and pharmacological aspects of cocaine-induced seizures. Polish Journal of Pharmacology 53:57-60.
Mazumder et al. 2004. Translations control by the 3'-UTR: the ends specify the means. Trends in Biochemical Sciences 28:91-98.
Moran, O. et al. 2001. Biochem Biophys Res Comm 282:55-59/.
Geysen H.M. et al. 1988. Cognitive features of continuous antigenic determinants. Journal of Molecular Recognition 1:32-41.
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).
Escayg et al.,Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2, Nature Genetics24:343-345 (Apr. 2000).
Lopes-Cendes et al.,A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2, Am. J. Hum. Genet. 66:698-701 (2000).
Moulard et al.,Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus(GEFS+)on Chromosome 2q24-q33, Am. J. Hum. Genet. 65:1396-1400 (1999).
Peiffer et al.,A Locus for Febrile Seizures(FEB3)Maps to Chromosome 2q23-24, Annals of Neurology46(4):671-678 (Oct. 1999).
Plummer et al.,Exon Organization, Coding Sequence, Physical Mapping, and Polymorphic Intragenic Markers for the Human Neuronal Sodium Channel Gene SCN8A, Genomics54:287-296 (1998).
Plummer et al.,Evolution and Diversity of Mammalian Sodium Channel Genes, Genomics57:323-331 (1999).
Scheffer et al.,Generlized epilepsy with febrile seizures plus A genetic disorder with heterogeneous clinical phenotypes, Brain120:479-490 (1997).
Scheffer et al.,Locus for Febrile Seizures, Annals of Neurology47(6):840-841 (Jun. 2000).
Singh et al.,Generlized Epilepsy with Febrile Seizures Plus: A Common Childhood-Onset Genetic Epilepsy Syndrome, Annals of Neurology45(1):75-81 (Jan. 1999).
Wallace et al.,Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channelβ1 subunit gene SCN1B, Nature Genetics19:366-370 (Aug. 1998).
Alekov et al., “A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activationin vitro,” Journal of Physiology, 529(3):533-539 (2000).
Wallace et al., “Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus,”Am. J. Hum. Genet., 68:859-865 (2001).
Escayg et al.,A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus- and Prevelance of Variants in Patients with Epilepsy, Am. J. of Hum. Genet. 68:866-873 (2001).
Berkovic Samuel Frank
Mulley John Charles
Wallace Robyn Heather
Andres Janet L.
Bionomics Limited
Jenkins & Wilson & Taylor, P.A.
Kolker Daniel E.
LandOfFree
Sodium-channel alpha1-subunit and their polypeptides and... does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Sodium-channel alpha1-subunit and their polypeptides and..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Sodium-channel alpha1-subunit and their polypeptides and... will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-3599616