Literature DB >> 19522081

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

A Orrico, L Galli, S Grosso, S Buoni, R Pianigiani, P Balestri, V Sorrentino.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19522081     DOI： 10.1111/j.1399-0004.2009.01155.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  14 in total

1.  Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.

Authors:  Wenbing Chen; Bin Luo; Nannan Gao; Haiwen Li; Hongsheng Wang; Lei Li; Wanpeng Cui; Lei Zhang; Dong Sun; Fang Liu; Zhaoqi Dong; Xiao Ren; Hongsheng Zhang; Huabo Su; Wen-Cheng Xiong; Lin Mei
Journal:  J Clin Invest       Date:  2021-04-15       Impact factor: 14.808

Review 2.  Electrophysiology and beyond: multiple roles of Na+ channel β subunits in development and disease.

Authors:  Gustavo A Patino; Lori L Isom
Journal:  Neurosci Lett       Date:  2010-06-23       Impact factor: 3.046

Review 3.  Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder.

Authors:  Amanda K Tilot; Thomas W Frazier; Charis Eng
Journal:  Neurotherapeutics       Date:  2015-07       Impact factor: 7.620

4.  Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.

Authors:  Emmanouil Manolakos; Catherine Sarri; Annalisa Vetro; Konstantinos Kefalas; Eleni Leze; Christalena Sofocleus; George Kitsos; Konstantina Merou; Haris Kokotas; Anna Papadopoulou; Achilleas Attilakos; Michael B Petersen; Sofia Kitsiou-Tzeli
Journal:  Mol Cytogenet       Date:  2011-02-23       Impact factor: 2.009

Review 5.  Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders.

Authors:  E Rossignol
Journal:  Neural Plast       Date:  2011-08-18       Impact factor: 3.599

6.  Voltage-gated sodium channels: biophysics, pharmacology, and related channelopathies.

Authors:  Eleonora Savio-Galimberti; Michael H Gollob; Dawood Darbar
Journal:  Front Pharmacol       Date:  2012-07-11       Impact factor: 5.810

Review 7.  On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseases.

Authors:  Debora Baroni; Oscar Moran
Journal:  Front Pharmacol       Date:  2015-05-18       Impact factor: 5.810

8.  Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.

Authors:  Neven Maksemous; Robert A Smith; Larisa M Haupt; Lyn R Griffiths
Journal:  Hum Genomics       Date:  2016-11-24       Impact factor: 4.639

9.  ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Authors:  Caitlin A Bennett; Slavé Petrovski; Karen L Oliver; Samuel F Berkovic
Journal:  Neurol Genet       Date:  2017-07-06

10.  Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Authors:  Dennis Lal; Eva M Reinthaler; Borislav Dejanovic; Patrick May; Holger Thiele; Anna-Elina Lehesjoki; Günter Schwarz; Erik Riesch; M Arfan Ikram; Cornelia M van Duijn; Andre G Uitterlinden; Albert Hofman; Hannelore Steinböck; Ursula Gruber-Sedlmayr; Birgit Neophytou; Federico Zara; Andreas Hahn; Padhraig Gormley; Felicitas Becker; Yvonne G Weber; Maria Roberta Cilio; Wolfram S Kunz; Roland Krause; Fritz Zimprich; Johannes R Lemke; Peter Nürnberg; Thomas Sander; Holger Lerche; Bernd A Neubauer
Journal:  PLoS One       Date:  2016-03-18       Impact factor: 3.240
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.