SCN9A: another sodium channel excited to play a role in human epilepsies

Autor: CN Doty

Publikováno v: PLoS Genetics

A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Nav1.7. In 21 affected members, we uncovered a potential mutation in a highly conserved amino acid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097308fb1374a53af5c98f704386fea0
https://doi.org/10.1111/j.1399-0004.2009.01366_1.x

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures

Autor: Annick Salzmann, Nathalie Roeckel-Trevisiol, Jennifer Cillario, Ekaterina Pataraia, Christoph Baumgartner, Ariel Crespel, Alain Malafosse, Magali Ponsole-Lenfant, Jorg Balzar, Nader Perroud, Patrice Roll, Ursula Gruber-Sedlmayr, Pierre Szepetowski, Alexander Zimprich, Kurt Schlachter, Fritz Zimprich, Sarah Jamali

Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2010, 5 (9), pp.e12740. ⟨10.1371/journal.pone.0012740⟩
PLOS ONE, Vol. 5, No 9 (2010)
PLoS ONE, Vol 5, Iss 9, Pp 3307-3314 (2010)

BACKGROUND: Human mesial temporal lobe epilepsies (MTLE) represent the most frequent form of partial epilepsies and are frequently preceded by febrile seizures (FS) in infancy and early childhood. Genetic associations of several complement genes incl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::354f54108756ecb1ff4c5c74fcc55096
https://pubmed.ncbi.nlm.nih.gov/20862287

'Functional Connectivity' Is A Sensitive Predictor of Epilepsy Diagnosis After the First Seizure

Autor: H.E. Ronner, Edwin van Dellen, Jaap C. Reijneveld, Jan J. Heimans, Marjolein de Groot, Linda Douw, Cornelis J. Stam

Publikováno v: Epilepsia, 51, 46-47. Wiley-Blackwell
PLoS ONE, 5(5):e10839, 1-7. Public Library of Science
Douw, L, de Groot, M, van Dellen, E, Heimans, J J, Ronner, H E, Stam, C J & Reijneveld, J C 2010, ' 'Functional Connectivity' Is A Sensitive Predictor of Epilepsy Diagnosis After the First Seizure ', Epilepsia, vol. 51, pp. 46-47 .
Douw, L, de Groot, M, van Dellen, E, Heimans, J J, Ronner, H E, Stam, C J & Reijneveld, J C 2010, ' 'Functional Connectivity' Is a Sensitive Predictor of Epilepsy Diagnosis after the First Seizure ', PLoS ONE, vol. 5, no. 5, e10839, pp. 1-7 . https://doi.org/10.1371/journal.pone.0010839
PLoS ONE
PLoS ONE, Vol 5, Iss 5, p e10839 (2010)

BACKGROUND: Although epilepsy affects almost 1% of the world population, diagnosis of this debilitating disease is still difficult. The EEG is an important tool for epilepsy diagnosis and classification, but the sensitivity of interictal epileptiform

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ec41f42898d09fff6eba2517ceaeb
https://research.vumc.nl/en/publications/7d84f065-a197-4189-a892-c5b8a393adba

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

Autor: Patrice Roll, Marc Delepine, Philippe Dessen, Nadine Bruneau, Audrey Labalme, Gabrielle Rudolf, Jacques Rochette, Andrée Robaglia-Schlupp, Gaetan Lesca, Jennifer Cillario, Damien Sanlaville, Elisabeth Jouve, Vladimir Lazar, G. Mark Lathrop, Annick Massacrier, Pierre Szepetowski

Publikováno v: PLoS ONE
PLoS ONE, 2010, 5 (10), pp.e13750. ⟨10.1371/journal.pone.0013750⟩
PLoS ONE, Public Library of Science, 2010, 5 (10), pp.e13750. ⟨10.1371/journal.pone.0013750⟩
PLoS ONE, Vol 5, Iss 10, p e13750 (2010)

International audience; Background: Benign infantile convulsions and paroxysmal dyskinesia are episodic cerebral disorders that can share common genetic bases. They can be co-inherited as one single autosomal dominant trait (ICCA syndrome); the disea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2ba7d87c43dbf2823becd7a1e8686d5
https://hal.science/hal-03509515/document

Thrombin-activatable fibrinolysis inhibitor (TAFI) deficient mice are susceptible to intracerebral thrombosis and ischemic stroke

Autor: Christoph Kleinschnitz, Guido Stoll, Tobias Schwarz, Joost C. M. Meijers, Peter Kraft

Publikováno v: PLoS ONE, Vol 5, Iss 7, p e11658 (2010)
PLoS ONE, 5(7). Public Library of Science
PLoS ONE

Background: Thrombus formation is a key step in the pathophysiology of acute ischemic stroke and results from the activation of the coagulation cascade. Thrombin plays a central role in this coagulation system and contributes to thrombus stability vi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbbfcea2b0b5e57898655bd1354fb22e
http://europepmc.org/articles/PMC2906507?pdf=render