Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jens Stoodt"'
Autor:
Thomas Sander, Ortrud K. Steinlein, Jens Stoodt, Bernd A. Neubauer, David B. Mount, Luyan Song
Publikováno v:
Epilepsy Research. 44:191-195
Genetic predisposition plays a major role in the etiology of idiopathic epilepsies. The common epilepsy syndromes display a complex pattern of inheritance, with an unknown number of genes contributing to seizure susceptibility. During the last decade
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b26a137e6ac05852ef5049ec628831
https://doi.org/10.1016/s0920-1211(01)00230-3
https://doi.org/10.1016/s0920-1211(01)00230-3
Autor:
Ortrud K. Steinlein, Ingrid E. Scheffer, John C. Mulley, Jens Stoodt, Eylert Brodtkorb, Samuel F. Berkovic
Publikováno v:
Epilepsia. 41:529-535
Summary: Purpose: To describe the clinical features of a family from Northern Norway in which autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is associated with a Ser248Phe amino acid exchange in the second transmembrane domain of the neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::164a3824bbed89a0ac5c84a25d182447
https://doi.org/10.1111/j.1528-1157.2000.tb00205.x
https://doi.org/10.1111/j.1528-1157.2000.tb00205.x
Publikováno v:
NeuroReport. 10:1163-1166
Mutations in the voltage gated potassium channel gene KCNQ2 and the homologous gene KCNQ3 have been found to cause a rare monogenic subtype of idiopathic generalized epilepsy, the benign familial neonatal convulsions. Recently, the heteromeric KCNQ2/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2ee0f957c7642eee00f92f0898ccc67
https://doi.org/10.1097/00001756-199904260-00001
https://doi.org/10.1097/00001756-199904260-00001
Publikováno v:
American Journal of Medical Genetics. 74:445-449
The alpha4 subunit gene of the neuronal nicotinic acetylcholine receptor (CHRNA4) has recently been identified as the first gene underlying an idiopathic partial epilepsy syndrome in human, autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::730aa6e807d779c578e01af0bbc5cb9a
https://doi.org/10.1002/(sici)1096-8628(19970725)74:4<445::aid-ajmg18>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970725)74:4<445::aid-ajmg18>3.0.co
Autor:
Ortrud K. Steinlein, Peter Propping, Jens Stoodt, Samuel F. Berkovic, Sigrid Weiland, Daniel Bertrand, Sonia Bertrand, Karl O. Nakken, Andres Magnusson
Publikováno v:
Human Molecular Genetics. 6:943-947
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is the first, and to date only, idiopathic epilepsy for which a specific mutation has been found. A missense mutation in the critical M2 domain of the alpha4 subunit of the neuronal nicotini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc0b87618cb5baa57e217c8ae4cd60b4
https://doi.org/10.1093/hmg/6.6.943
https://doi.org/10.1093/hmg/6.6.943
Publikováno v:
Genomics. 32:289-294
The human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4) is located in the candidate region for three different phenotypes: benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, and low-vol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::945d15388c45e36ede2849667678b026
https://doi.org/10.1006/geno.1996.0119
https://doi.org/10.1006/geno.1996.0119
Autor:
Jon Lindstrom, Sonja Nowacki, Hannsjörg Schröder, Kirsten Pilz, Ernst N.H. Jansen Steur, Bernd Achnitz, Udo Krempel, Ulrich Schütz, Brigitte Witter, Rob A.I. de Vos, Jens Stoodt, Lothar Burghaus, Andrea Wevers, Ortrud K. Steinlein, Natasha Moser
Publikováno v:
Behavioural brain research. 113(1-2)
Nicotinic ligand binding studies have shown rather early that the cholinoceptive system is affected in Alzheimer's disease (AD). Today, molecular histochemistry enables one to study the nicotinic acetylcholine receptor (nAChR) subunit expression on t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d7e3fa3040bf447daae0d8d7d34c61
https://pubmed.ncbi.nlm.nih.gov/10942047
https://pubmed.ncbi.nlm.nih.gov/10942047
Autor:
Steur En, Ulrich Schütz, Wevers A, Hannsjörg Schröder, Ortrud K. Steinlein, de Vos Ra, Jens Stoodt
Publikováno v:
Neuroreport. 10(14)
Potential genomic changes leading to decreased nicotine binding, crucial for cognitive dysfunction in Alzheimer's disease (AD), have not yet been studied. A search for mutations of the genes coding for the most widely distributed nicotinic receptor s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ca8942b1b3112414ef0dd1809d654a6
https://pubmed.ncbi.nlm.nih.gov/10549797
https://pubmed.ncbi.nlm.nih.gov/10549797