The Molecular Biology of Genetic-Based Epilepsies

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

(2012) Birgit Krabichler et al.   ANNALS OF HUMAN GENETICS

Genetics of Epilepsy and Relevance to Current Practice

(2012) Roberto Michelucci et al.   Current Neurology and Neuroscience Reports

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development

(2012) Laurence de Nijs et al.   HUMAN MOLECULAR GENETICS

A rat model for LGI1-related epilepsies

(2012) Stéphanie Baulac et al.   HUMAN MOLECULAR GENETICS

Novel mutations consolidateKCTD7as a progressive myoclonus epilepsy gene

(2012) Maria Kousi et al.   JOURNAL OF MEDICAL GENETICS

The Intronic GABRG2 Mutation, IVS6+2T->G, Associated with Childhood Absence Epilepsy Altered Subunit mRNA Intron Splicing, Activated Nonsense-Mediated Decay, and Produced a Stable Truncated  2 Subunit

(2012) M. Tian et al.   JOURNAL OF NEUROSCIENCE

Compromised function in the Nav1.2 Dravet syndrome mutation R1312T

(2012) Christoph Lossin et al.   NEUROBIOLOGY OF DISEASE

Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF

(2012) Y.-Y. Ho et al.   NEUROLOGY

LGI1microdeletion in autosomal dominant lateral temporal epilepsy

(2012) M. Fanciulli et al.   NEUROLOGY

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

(2012) P. Striano et al.   NEUROLOGY

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy

(2012) Aurelio Jara-Prado et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

Towards an integrated view of HCN channel role in epilepsy

(2011) Yoav Noam et al.   CURRENT OPINION IN NEUROBIOLOGY

The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy

(2011) Hui Liu et al.   EPILEPSY RESEARCH

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

(2011) Su-Kyeong Hwang et al.   JOURNAL OF HUMAN GENETICS

Recessive Loss-of-Function Mutation in the Pacemaker HCN2 Channel Causing Increased Neuronal Excitability in a Patient with Idiopathic Generalized Epilepsy

(2011) J. C. DiFrancesco et al.   JOURNAL OF NEUROSCIENCE

Pyridoxine dependent epilepsy and antiquitin deficiency

(2011) Sylvia Stockler et al.   MOLECULAR GENETICS AND METABOLISM

Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons

(2011) Régis Azizieh et al.   MOLECULAR NEUROBIOLOGY

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation

(2011) P. Striano et al.   NEUROLOGY

Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies

(2010) I. E. Scheffer et al.   BRAIN

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

(2010) Hiltrud Muhle et al.   EPILEPSIA

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures

(2010) N. Fendri-Kriaa et al.   EUROPEAN JOURNAL OF NEUROLOGY

A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons

(2010) Mark Estacion et al.   EXPERIMENTAL NEUROLOGY

Altered Function of theSCN1AVoltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities

(2010) Melinda S. Martin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

GABAAReceptor α1 Subunit Mutation A322D Associated with Autosomal Dominant Juvenile Myoclonic Epilepsy Reduces the Expression and Alters the Composition of Wild Type GABAAReceptors

(2010) Li Ding et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1

(2010) Gunter Scharer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

(2010) Luis Felipe Mendonça Siqueira   JOURNAL OF NEUROLOGY

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

(2010) Miriam H. Meisler et al.   JOURNAL OF PHYSIOLOGY-LONDON

Mutations in GABAAreceptor subunits associated with genetic epilepsies

(2010) Robert L. Macdonald et al.   JOURNAL OF PHYSIOLOGY-LONDON

Polymerase Gamma 1 Mutations

(2010) Margherita Milone et al.   NEUROLOGIST

Mutations affecting GABAergic signaling in seizures and epilepsy

(2010) Aristea S. Galanopoulou   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Arrested Glutamatergic Synapse Development in Human Partial Epilepsy

(2010) Matthew P. Anderson   Epilepsy Currents

Augmented currents of an HCN2 variant in patients with febrile seizure syndromes

(2009) Leanne M. Dibbens et al.   ANNALS OF NEUROLOGY

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

(2009) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

The expanding phenotype of GLUT1-deficiency syndrome

(2009) Knut Brockmann   BRAIN & DEVELOPMENT

SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

(2009) Carla Marini et al.   EPILEPSIA

Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of humanKCNQ2andKCNQ3mutations for benign familial neonatal convulsions

(2009) James F. Otto et al.   EPILEPSIA

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

(2009) Toshimitsu Suzuki et al.   HUMAN MOLECULAR GENETICS

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

(2009) Ligia A. Papale et al.   HUMAN MOLECULAR GENETICS

Expression of mutant β2 nicotinic receptors during development is crucial for epileptogenesis

(2009) Irene Manfredi et al.   HUMAN MOLECULAR GENETICS

Two novelCLCN2mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

(2009) C��cile Saint-Martin et al.   HUMAN MUTATION

LGI1mutations in autosomal dominant and sporadic lateral temporal epilepsy

(2009) Carlo Nobile et al.   HUMAN MUTATION

A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

(2009) G. A. Patino et al.   JOURNAL OF NEUROSCIENCE

De novo mutations of voltage-gated sodium channel  II gene SCN2A in intractable epilepsies

(2009) I. Ogiwara et al.   NEUROLOGY

Role of voltage-gated calcium channels in epilepsy

(2009) Gerald W. Zamponi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy

(2008) Miyabi Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

(2008) A. Suls et al.   BRAIN

Guide to Receptors and Channels (GRAC), 3rd edition

(2008) S P H Alexander et al.   BRITISH JOURNAL OF PHARMACOLOGY

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

(2008) M. T. Medina et al.   NEUROLOGY

Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy

(2008) M. Fedi et al.   NEUROLOGY

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

(2008) Katherine D. Holland et al.   NEUROSCIENCE LETTERS

Mechanisms of human inherited epilepsies

(2008) Christopher A. Reid et al.   PROGRESS IN NEUROBIOLOGY

Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in theCHRNB2gene

(2007) Fernando Daz-Otero et al.   EPILEPSIA