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Early and effective treatment of KCNQ2 encephalopathy.

auteur

Tiziana Pisano

Adam L Numis

Sarah Weckhuysen

Arvid Suls

Ingrid Scheffer

1958 -

Renzo Guerrini

1956 -

Marco Angriman

Maria Roberta Cilio

gepubliceerd in: Epilepsia

publicatiedatum: 2015-04-16

taal: Engels

Cites articles 19

Date

Titel

Auteurs

2014-10

Epileptic encephalopathies: new genes and new pathways
2014-10-02

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
2013-01-01

The epileptic encephalopathies

Renzo Guerrini
2013-08-11

De novo mutations in epileptic encephalopathies

Evan E. Eichler, Slavé Petrovski, Renee Shellhaas, Edward J Novotny, Jacqueline French, Terence J O'Brien, Orrin Devinsky, Ingrid Scheffer, Eileen P. G. Vining, E Kossoff, Sarah E Buerki, Maura R. Z. Ruzhnikov, Patrick Cossette, Annapurna Poduri, Heather C Mefford, Samuel Berkovic, Daniel H. Lowenstein, Andrew S Allen, David B Goldstein, Erin L Heinzen, A G Marson
2013-10-09

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

Sarah Weckhuysen, Rikke S Møller, Rita Horvath, Tiziana Pisano, S Mandelstam, Ingrid Scheffer, Arvid Suls, Renzo Guerrini, Annapurna Poduri, Johannes R Lemke, Pasquale Striano, Peter De Jonghe, Rudy Van Coster, An-Sofie Schoonjans, Berten Ceulemans, Christin Eltze, L Giordano, Kevin Rostásy, Andrea Bevot, Beth Sheidley, Marco Angriman
2013-05-22

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Nadia Boutry-Kryza, Thierry Billette de Villemeur, Gaetan Lesca, Delphine Héron, Alexandra Afenjar
2013-12-26

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response

Adam L Numis
2013-05-26

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Jay Shendure, Tally Lerman-Sagie, Jacinta M McMahon, Deepak Gill, Brian J O'Roak, Ingrid Scheffer, Samuel Berkovic, Amos D Korczyn, Dorit Lev, Lynette Sadleir, Heather C Mefford, Gemma L Carvill, Rikke S Møller, Simone C Yendle, Adiba Khan, Michael O Dorschner
2013-04-26

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

Yoshinori Tsurusaki, Mitsuhiro Kato, M Kubota, Hiroshi Arai, Hirotomo Saitsu
2013-02-25

Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits

Paolo Ambrosino, Maria Virginia Soldovieri, Francesco Miceli, Michele Migliore
2013-10-23

Efficacy of retigabine in adjunctive treatment of partial onset seizures in adults
2012-01-01

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy

S Mandelstam, Arvid Suls, Anna C Jansen, Sarah E Heron, Samuel Berkovic, Ingrid Scheffer
2012-10-22

Modulation of voltage-gated K+ channels by the sodium channel β1 subunit

Alan Goldin, Brian J. Smith, ShK toxin: history, structure and therapeutic applications for autoimmune diseases
2012-01-05

The mechanism of action of retigabine (ezogabine), a first-in-class K+ channel opener for the treatment of epilepsy
2007-08-01

Infant developmental milestones and subsequent cognitive function

Diana Kuh, Graham K Murray, Peter B. Jones, Marcus Richards
2006-03-08

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon

Steven S. Scherer
1999-09-01

Carbamazepine inhibits L-type Ca2+ channels in cultured rat hippocampal neurons stimulated with glutamate receptor agonists

António Francisco Ambrósio, Ana P. Silva, Patrício Soares-da-Silva, João O Malva
1998-01

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

Carole Charlier
1989-02-01

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

Jean-Marc Lalouel

Artike - wd:Q41062950

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