نتایج جستجو برای: scn1a

تعداد نتایج: 569  

2011
Claudia B. Catarino Joan Y.W. Liu Ioannis Liagkouras Vaneesha S. Gibbons Robyn W. Labrum Rachael Ellis Cathy Woodward Mary B. Davis Shelagh J. Smith J. Helen Cross Richard E. Appleton Simone C. Yendle Jacinta M. McMahon Susannah T. Bellows Thomas S. Jacques Sameer M. Zuberi Matthias J. Koepp Lillian Martinian Ingrid E. Scheffer Maria Thom Sanjay M. Sisodiya

Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known. We identified a series of 22 adult patients, including three adult post-mortem cases with Dravet syndrome. For all patients, we reviewed the clinical history, seizure types and frequency, antiepileptic...

Journal: :Molecular Genetics & Genomic Medicine 2020

2009
Gerhard L. Holleck

Using a rotating vitreous carbon disk electrode, the kinetic parameters for chlorine reduction in an AlCl3 KCl-NaC1 (57.5-12.5-30 mol g%) melt were determined. It was found that the reduction of chlorine occurs according to the paths: C1 2 + e C1 + Clad s ads with the first step being most probably rate determining. The apparent exchange currents were (1 ± 0.15)10 -4A/cm 2 at 130 °C and (2.1 ± ...

Journal: :The Journal of General Physiology 2003
W. J. V. Osterhout

During the process of death the electrical conductivity of many tissues undergoes a change in electrical resistance by means of which the process may be followed with considerable precision. This may be utilized to measure injury and recovery. 1 An illustration of this is seen in Fig. 1, which shows the gradual fall in resistance 2 of Lamlnaria placed in 0.52 ~t NaC1. 8 After an exposure of 5.2...

2013
Dalia Kasperavičiūtė Claudia B. Catarino Mar Matarin Costin Leu Jan Novy Anna Tostevin Bárbara Leal Ellen V. S. Hessel Kerstin Hallmann Michael S. Hildebrand Hans-Henrik M. Dahl Mina Ryten Daniah Trabzuni Adaikalavan Ramasamy Saud Alhusaini Colin P. Doherty Thomas Dorn Jörg Hansen Günter Krämer Bernhard J. Steinhoff Dominik Zumsteg Susan Duncan Reetta K. Kälviäinen Kai J. Eriksson Anne-Mari Kantanen Massimo Pandolfo Ursula Gruber-Sedlmayr Kurt Schlachter Eva M. Reinthaler Elisabeth Stogmann Fritz Zimprich Emilie Théâtre Colin Smith Terence J. O’Brien K. Meng Tan Slave Petrovski Angela Robbiano Roberta Paravidino Federico Zara Pasquale Striano Michael R. Sperling Russell J. Buono Hakon Hakonarson João Chaves Paulo P. Costa Berta M. Silva António M. da Silva Pierre N. E. de Graan Bobby P. C. Koeleman Albert Becker Susanne Schoch Marec von Lehe Philipp S. Reif Felix Rosenow Felicitas Becker Yvonne Weber Holger Lerche Karl Rössler Michael Buchfelder Hajo M. Hamer Katja Kobow Roland Coras Ingmar Blumcke Ingrid E. Scheffer Samuel F. Berkovic Michael E. Weale Norman Delanty Chantal Depondt Gianpiero L. Cavalleri Wolfram S. Kunz Sanjay M. Sisodiya

Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treat...

Journal: :Journal of nematology 1979
T A Rutherford N A Croll

The wave forms and activity patterns of Caenorhabditis elegans were examined on agar in the presence of known chemical attractants (NaCl) and repellents (D-tryptophan), and in thermal gradients. Total activity was reduced in both attractants and repellents. Different combinations of transfers between chemicals were investigated. Two thresholds were found for NaCl: 10(-3) M NaC1 caused reduced a...

2013
Rima Nabbout Nicole Chemaly Mathilde Chipaux Giulia Barcia Charles Bouis Celia Dubouch Dorothee Leunen Isabelle Jambaqué Olivier Dulac Georges Dellatolas Catherine Chiron

BACKGROUND Dravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. Our objective was to prospectively analyze the neuropsychological features in a large cohort of DS patients and its relationships with epileps...

Journal: :Epilepsy research 2014
François Le Gal Sébastien Lebon Gian Paolo Ramelli Alexandre N Datta Danielle Mercati Oliver Maier Christophe Combescure Maria Isabel Rodriguez Margitta Seeck Eliane Roulet Christian M Korff

PURPOSE To identify clinical risk factors for Dravet syndrome (DS) in a population of children with status epilepticus (SE). MATERIAL AND METHODS Children aged between 1 month and 16 years with at least one episode of SE were referred from 6 pediatric neurology centers in Switzerland. SE was defined as a clinical seizure lasting for more than 30min without recovery of normal consciousness. Th...

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