Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy

GAPDH-mediated posttranscriptional regulations of sodium channel Scn1a and Scn3a genes under seizure and ketogenic diet conditions

(2017) Guo-Wang Lin et al.   NEUROPHARMACOLOGY

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

(2017) Ahmed Arafat et al.   Scientific Reports

De novo GABRG2mutations associated with epileptic encephalopathies

(2016) Dingding Shen et al.   BRAIN

Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome

(2016) Nan Gai et al.   CLINICA CHIMICA ACTA

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

(2016) Elena Parrini et al.   HUMAN MUTATION

Pyridoxine-dependent epilepsy: report on three families with neuropathology

(2016) Florent Marguet et al.   METABOLIC BRAIN DISEASE

Perspective: The precision-oncology illusion

(2016) Vinay Prasad   NATURE

Limits to Personalized Cancer Medicine

(2016) Ian F. Tannock et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder

(2016) Amitha L. Ananth et al.   PEDIATRIC NEUROLOGY

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures

(2016) Samantha Palmer et al.   PEDIATRIC NEUROLOGY

Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations

(2016) Yukiko Ihara et al.   PLoS One

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

(2016) Jan Lotte et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Quinidine in the treatment of KCNT1-positive epilepsies

(2015) Mohamad A Mikati et al.   ANNALS OF NEUROLOGY

Early and effective treatment ofKCNQ2encephalopathy

(2015) Tiziana Pisano et al.   EPILEPSIA

SPTAN1 encephalopathy: distinct phenotypes and genotypes

(2015) Jun Tohyama et al.   JOURNAL OF HUMAN GENETICS

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach

(2015) K. Dörre et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Epilepsy: new advances

(2015) Solomon L Moshé et al.   LANCET

Epilepsy treatment: precision medicine at a crossroads

(2015) Dick Lindhout   LANCET NEUROLOGY

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population

(2015) Nan Lv et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

(2014) P. B. Mills et al.   BRAIN

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

(2013) Darcy A. Krueger et al.   ANNALS OF NEUROLOGY

Gene-Wide Tagging Study of the Association BetweenKCNT1Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population

(2013) Jian Qu et al.   CNS Neuroscience & Therapeutics

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation

(2013) Anders Helander et al.   MOLECULAR GENETICS AND METABOLISM

New avenues for anti-epileptic drug discovery and development

(2013) Wolfgang Löscher et al.   NATURE REVIEWS DRUG DISCOVERY

Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment

(2013) Scott C. Baraban et al.   Nature Communications

HCN channelopathies: pathophysiology in genetic epilepsy and therapeutic implications

(2011) Christopher A Reid et al.   BRITISH JOURNAL OF PHARMACOLOGY

Therapy for hyperthermia-induced seizures in Scn1a mutant rats

(2011) Keiichiro Hayashi et al.   EPILEPSIA

Epilepsy Care in Developing Countries: Part I of II

(2010) Gretchen L. Birbeck   Epilepsy Currents

Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies

(2009) Patrick Kwan et al.   EPILEPSIA

Vigabatrin in the treatment of childhood epilepsy: A retrospective chart review of efficacy and safety profile

(2008) Susana E. Camposano et al.   EPILEPSIA

Anticonvulsant effects of the BK-channel antagonist paxilline

(2008) Jesse J. Sheehan et al.   EPILEPSIA

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE