Analysis of gene variants in the GASH/Sal model of epilepsy

Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome

(2019) Jiaping Wang et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

(2019) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing

(2019) Carey‐Anne Evans et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Differentially methylated regions in bipolar disorder and suicide

(2019) Marie E. Gaine et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer

(2019) Raffaella Liccardo et al.   Cancer Management and Research

Both gain‐of‐function and loss‐of‐function de novo CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

(2019) Xiao Jiang et al.   EPILEPSIA

Biophysical characterization and modulation of Transthyretin Ala97Ser

(2019) Yo‐Tsen Liu et al.   Annals of Clinical and Translational Neurology

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy

(2018) Kameryn M Butler et al.   BRAIN

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

(2018) Ivan Ivanovski et al.   GENETICS IN MEDICINE

What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?

(2018) Bobby P.C. Koeleman   NEUROSCIENCE LETTERS

The impact of genetic and experimental studies on classification and therapy of the epilepsies

(2018) Giuliano Avanzini et al.   NEUROSCIENCE LETTERS

Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome

(2018) Nevyana Ivanova et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Rare loss of function mutations in N-methyl-d-aspartate glutamate receptors and their contributions to schizophrenia susceptibility

(2018) Yanjie Yu et al.   Translational Psychiatry

TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation

(2018) Iliyana Hristova Pacheva et al.   Frontiers in Pediatrics

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP)

(2018) Daniel Friedman et al.   npj Genomic Medicine

Transcriptome of the Wistar audiogenic rat (WAR) strain following audiogenic seizures

(2018) Samara Damasceno et al.   EPILEPSY RESEARCH

Brainstem spreading depolarization and cortical dynamics during fatal seizures in Cacna1a S218L mice

(2018) Inge C M Loonen et al.   BRAIN

Deletion of Long Isoform of Eukaryotic Elongation Factor 1Bδ Leads to Audiogenic Seizures and Aversive Stimulus-Induced Long-Lasting Activity Suppression in Mice

(2018) Taku Kaitsuka et al.   Frontiers in Molecular Neuroscience

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Molecular and neurochemical substrates of the audiogenic seizure strains: The GASH:Sal model

(2017) Ana I. Prieto-Martín et al.   EPILEPSY & BEHAVIOR

The Krushinsky-Molodkina rat strain: The study of audiogenic epilepsy for 65 years

(2017) I.I. Poletaeva et al.   EPILEPSY & BEHAVIOR

Genetically epilepsy-prone rats (GEPRs) and DBA/2 mice: Two animal models of audiogenic reflex epilepsy for the evaluation of new generation AEDs

(2017) Giovambattista De Sarro et al.   EPILEPSY & BEHAVIOR

The genetic audiogenic seizure hamster from Salamanca: The GASH:Sal

(2017) Luis J. Muñoz et al.   EPILEPSY & BEHAVIOR

An abnormal GABAergic system in the inferior colliculus provides a basis for audiogenic seizures in genetically epilepsy-prone rats

(2017) Charles E. Ribak   EPILEPSY & BEHAVIOR

Morphofunctional alterations in the olivocochlear efferent system of the genetic audiogenic seizure-prone hamster GASH:Sal

(2017) David Sánchez-Benito et al.   EPILEPSY & BEHAVIOR

Pharmacological and neuroethological study of the acute and chronic effects of lamotrigine in the genetic audiogenic seizure hamster (GASH:Sal)

(2017) B. Barrera-Bailón et al.   EPILEPSY & BEHAVIOR

Overexpression of the immediate-early genes Egr1, Egr2, and Egr3 in two strains of rodents susceptible to audiogenic seizures

(2017) D. López-López et al.   EPILEPSY & BEHAVIOR

The Wistar Audiogenic Rat (WAR) strain and its contributions to epileptology and related comorbidities: History and perspectives

(2017) Norberto Garcia-Cairasco et al.   EPILEPSY & BEHAVIOR

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

(2017) Piero Perucca et al.   EPILEPSY RESEARCH

Epilepsy-associated genes

(2017) Jie Wang et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

(2016) Martin W. Breuss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expression pattern of NMDA receptors reveals antiepileptic potential of apigenin 8-C-glucoside and chlorogenic acid in pilocarpine induced epileptic mice

(2016) G. Smilin Bell Aseervatham et al.   BIOMEDICINE & PHARMACOTHERAPY

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing

(2016) Natalia Babkina et al.   European Journal of Medical Genetics

The genetic absence epilepsy rat from Strasbourg as a model to decipher the neuronal and network mechanisms of generalized idiopathic epilepsies

(2016) Antoine Depaulis et al.   JOURNAL OF NEUROSCIENCE METHODS

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS)

(2016) Sam W. Moore et al.   JOURNAL OF PEDIATRIC SURGERY

Mowat-Wilson syndrome: neurological and molecular study in seven patients

(2015) José Albino da Paz et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

The spectrum ofZEB2mutations causing the Mowat-Wilson syndrome in Japanese populations

(2014) Yasukazu Yamada et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Progress and Outlooks in a Genetic Absence Epilepsy Model (WAG/Rij)

(2014) G. Luijtelaar et al.   CURRENT MEDICINAL CHEMISTRY

Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models

(2014) Renzo Guerrini et al.   Neurotherapeutics

Intracerebral amyloidoma: case report and review of the literature

(2013) H. Foreid et al.   CLINICAL NEUROPATHOLOGY

Pharmacological and neuroethological studies of three antiepileptic drugs in the Genetic Audiogenic Seizure Hamster (GASH:Sal)

(2013) B. Barrera-Bailón et al.   EPILEPSY & BEHAVIOR

EEG characterization of audiogenic seizures in the hamster strain GASH:Sal

(2013) Melissa M. Carballosa-Gonzalez et al.   EPILEPSY RESEARCH

Transcriptome profiling of hippocampal CA1 after early-life seizure-induced preconditioning may elucidate new genetic therapies for epilepsy

(2013) L. K. Friedman et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

The epilepsies: Complex challenges needing complex solutions

(2012) Julián Tejada et al.   EPILEPSY & BEHAVIOR

SPAdes: A New Genome Assembly Algorithm and Its Applications to Single-Cell Sequencing

(2012) Anton Bankevich et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

A nonsense mutation in FMR1 causing fragile X syndrome

(2011) Karen Grønskov et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops

(2011) Shikha Gupta et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

FFAS server: novel features and applications

(2011) L. Jaroszewski et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Genetic mechanisms in idiopathic epilepsies

(2009) Yvonne G Weber et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS