Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Benign Neonatal Epilepsy"'
Autor:
Giulia Salomone, Lidia Marino, Mattia Comella, Raffaele Falsaperla, Anna Portale, Alessandra Di Nora, Andrea D. Praticò, Roberta Leonardi
KCNQ genes encode for a family of six transmembrane domains, single pore-loop, and K+ channel α-subunits that have a wide range of physiological correlates. In the brain, KCNQ2 and KCNQ3 heteromultimers are thought to underlie the M-current which is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b84c32ab8be80e871d9243efba83d80
http://hdl.handle.net/20.500.11769/508419
http://hdl.handle.net/20.500.11769/508419
Publikováno v:
EpilepsiaREFERENCES. 60(9)
Objective Pathogenic variants of KCNQ2, which encode a potassium channel subunit, cause either benign (familial) neonatal epilepsy-B(F)NE)-or KCNQ2 encephalopathy (KCNQ2 DEE). We examined the characteristics of KCNQ2 variants. Methods KCNQ2 pathogeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8256c68f1b7be93c80a89582ccc434d
https://pubmed.ncbi.nlm.nih.gov/31418850
https://pubmed.ncbi.nlm.nih.gov/31418850
Autor:
Nathalie Dorison, Marion Gérard, Bernard Echenne, Gaetan Lesca, Maria Virginia Soldovieri, A Roubergue, Bénédicte Héron, Alain Calender, Audrey Riquet, Francesco Miceli, Julie Oertel, Mathieu Milh, Paolo Ambrosino, Diane Doummar, Stéphane Auvin, Maurizio Taglialatela, Cyril Mignot, Laetitia Lambert, Michela De Maria, Nadia Boutry-Kryza, Emilie Bourel
Publikováno v:
Human Mutation. 35:356-367
Mutations in the KCNQ2 and KCNQ3 genes encoding for Kv 7.2 (KCNQ2; Q2) and Kv 7.3 (KCNQ3; Q3) voltage-dependent K(+) channel subunits, respectively, cause neonatal epilepsies with wide phenotypic heterogeneity. In addition to benign familial neonatal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2612b687f9f61bc507296e53b93155
https://doi.org/10.1002/humu.22500
https://doi.org/10.1002/humu.22500
Publikováno v:
Neuropediatrics. 47
Introduction: Mutations in the KCNQ2 gene lead to autosomal dominant benign neonatal seizures or early-onset epileptic encephalopathy. We describe here a female patient with focal epileptic seizures starting from four months of age, carrying a hetero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a94bd9ec10bc787cb80e55b5563ea632
https://doi.org/10.1055/s-0036-1583617
https://doi.org/10.1055/s-0036-1583617
Autor:
Sawa Yasumoto, Atsushi Ishii, Hirokazu Kurahashi, Ji-wen Wang, Sunao Kaneko, Tasuku Miyajima, Shinichi Hirose
Publikováno v:
Epilepsy Research. 102:122-125
The molecular pathogenesis of benign childhood epilepsy with centrotemporal spikes (BECTS) remains unclear whereas mutations of the KCNQ2 and KCNQ3 genes have been identified as causes of benign familial neonatal convulsions. We report here a girl wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53cd422c904c2088673d025e244111aa
https://doi.org/10.1016/j.eplepsyres.2012.07.011
https://doi.org/10.1016/j.eplepsyres.2012.07.011
Autor:
Goryu Fukuma, Sawa Yasumoto, Midori Yasukochi, Atsushi Ishii, Akira Uehara, Akiyo Hamachi, Tasuku Miyajima, Shinichi Hirose, Motohiro Okada, Sunao Kaneko, Akihisa Mitsudome, Yoshio Makita, Takahito Inoue
Publikováno v:
Brain and Development. 31:27-33
Background: The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2 , a K + channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf4c33a500030e947d83c7a675a7c90
https://doi.org/10.1016/j.braindev.2008.05.010
https://doi.org/10.1016/j.braindev.2008.05.010
Autor:
Orvar Eeg-Olofsson, J. Heinzinger, Bernd A. Neubauer, Ulrich Stephani, F. Eberhard, S. Waldegger, Gerd Kurlemann, Barbara Fiedler, S. Garkisch, Andreas Hahn, Thomas Sander, Hiltrud Muhle, Ulrich Müller
Publikováno v:
Neurology. 71:177-183
Objective: To explore the involvement of M-type potassium channels KCNQ2 , Q3 , and Q5 in the pathogenesis of common idiopathic epilepsies. Methods: Sequence analysis of the KCNQ2 , Q3 , and Q5 coding regions was performed in a screening sample consi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::431d91fd60c8eaa2520d5021e4ff3c6d
https://doi.org/10.1212/01.wnl.0000317090.92185.ec
https://doi.org/10.1212/01.wnl.0000317090.92185.ec
Publikováno v:
Brain and Development. 30:20-30
Our aim was to identify early predictors of poor neurodevelopmental outcome and of subsequent epilepsy in very early preterm and late preterm newborns with neonatal seizures.Fifty-one preterm infants with gestational age (GA)or=36 weeks were identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fddedba3a8c3af6f344116075bea6f82
https://doi.org/10.1016/j.braindev.2007.05.003
https://doi.org/10.1016/j.braindev.2007.05.003
Publikováno v:
European Journal of Paediatric Neurology. 9(2):91-103
The identification of the first genes associated with idiopathic epilepsy has been an important breakthrough in the field of epilepsy research. In almost all cases these genes were found to encode components of voltage- or ligand-gated ion channels o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af70043d745eb920906002ffb8a82e26
https://doi.org/10.1016/j.ejpn.2004.12.005
https://doi.org/10.1016/j.ejpn.2004.12.005
Publikováno v:
NeuroReport. 11:2063-2067
In 1998, mutations in the voltage gated potassium channel gene KCNQ2 were found to be the main cause underlying the autosomal dominant inherited syndrome of benign familial neonatal convulsions (BFNC). In one BFNC family a mutation was found in an ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47c5c25af841d72bcae58578d6442ee9
https://doi.org/10.1097/00001756-200006260-00050
https://doi.org/10.1097/00001756-200006260-00050