NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype in a novel zebrafish model for Dravet Syndrome

Autor: Marco Inserra, Wout J. Weuring, Kees P.J. Braun, Linda Volkers, Nanda M. Verhoeven-Duif, Ruben van 't Slot, Irina Vetter, Sakshi Singh, Bobby P. C. Koeleman, Mirko Rivara, Martin B. Rook, Marjolein Bosma

Dravet syndrome is caused by dominant loss-of-function mutations in SCN1A which cause reduced activity of Nav1.1 leading to lack of neuronal inhibition. On the other hand, gain-of-function mutations in SCN8A can lead to a severe epileptic encephalopa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc52538826dd5c801e76d4e0b623fd96

Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation

Autor: Joost H.G. Das, Marjan J. A. van Kempen, Martin B. Rook, Bobby P. C. Koeleman, Kristopher M. Kahlig, Linda Volkers, Dick Lindhout

Publikováno v: The Journal of General Physiology

Generalized epilepsy with febrile seizures plus (GEFS+) is an early onset febrile epileptic syndrome with therapeutic responsive (a)febrile seizures continuing later in life. Dravet syndrome (DS) or severe myoclonic epilepsy of infancy has a complex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a24a47650e51f99b47a5b30a79267cb3
http://europepmc.org/articles/PMC3840920

Piezo channels: from structure to function

Autor: Yasmine Mechioukhi, Bertrand Coste, Linda Volkers

Publikováno v: Pflügers Archiv European Journal of Physiology
Pflügers Archiv European Journal of Physiology, Springer Verlag, 2014, 467 (1), pp.95-9
Pflügers Archiv European Journal of Physiology, Springer Verlag (Germany), 2014, 467 (1), pp.95-9
Pflügers Archiv European Journal of Physiology, 2014, 467 (1), pp.95-9

International audience; Mechanotransduction is the conversion of mechanical stimuli into biological signals. It is involved in the modulation of diverse cellular functions such as migration, proliferation, differentiation, and apoptosis as well as in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f09aa5977b358980ea5eecee989ae5d
https://hal.archives-ouvertes.fr/hal-01188641

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome

Autor: Linda, Volkers, Kristopher M, Kahlig, Nienke E, Verbeek, Joost H G, Das, Marjan J A, van Kempen, Hans, Stroink, Paul, Augustijn, Onno, van Nieuwenhuizen, Dick, Lindhout, Alfred L, George, Bobby P C, Koeleman, Martin B, Rook

Publikováno v: The European journal of neuroscience. 34(8)

Relatively few SCN1A mutations associated with genetic epilepsy with febrile seizures-plus (GEFS+) and Dravet syndrome (DS) have been functionally characterized. In contrast to GEFS+, many mutations detected in DS patients are predicted to have compl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bf4bf8ba46445b97cd05278a3b7e23fa
https://pubmed.ncbi.nlm.nih.gov/21864321

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families

Autor: Dalila Pinto, Birgit Westland, Dorothée G.A. Kasteleijn-Nolst Trenité, Gerrit-Jan de Haan, Linda Volkers, Bobby P. C. Koeleman, Sandrien Louwaars, Dick Lindhout

Publikováno v: Epilepsia. 47(10)

Summary: Purpose: The EFHC1 gene, encoding a protein with a Ca2+-sensing EF-hand motif, is localized at 6p12 and was recently reported as mutated in six Mexican juvenile myoclonic epilepsy (JME) families linked to this region. We had previously confi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5757e0fa317e6d15fbdc4c72440d8a57
https://pubmed.ncbi.nlm.nih.gov/17054699