Genetics of the epilepsies

Doublecortin Is a Microtubule-Associated Protein and Is Expressed Widely by Migrating Neurons

1999 • 1,297 citations

KCNQ2 and KCNQ3 Potassium Channel Subunits: Molecular Correlates of the M-Channel

1998 • 1,283 citations

Reeler/Disabled-like Disruption of Neuronal Migration in Knockout Mice Lacking the VLDL Receptor and ApoE Receptor 2

1999 • 1,231 citations

Doublecortin Is a Developmentally Regulated, Microtubule-Associated Protein Expressed in Migrating and Differentiating Neurons

1999 • 974 citations

Direct Binding of Reelin to VLDL Receptor and ApoE Receptor 2 Induces Tyrosine Phosphorylation of Disabled-1 and Modulates Tau Phosphorylation

1999 • 902 citations

Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia

1998 • 858 citations

Deletion of the KV1.1 Potassium Channel Causes Epilepsy in Mice

1998 • 579 citations

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

1998 • 522 citations

Mice Lacking the β₃Subunit of the GABA_AReceptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome

1998 • 449 citations

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

1999 • 367 citations

NudF, a nuclear migration gene in Aspergillus nidulans, is similar to the human LIS-1 gene required for neuronal migration.

1995 • 337 citations

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1999 • 316 citations

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

1998 • 300 citations

Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16

1997 • 299 citations

Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit

1997 • 298 citations

Identification of the Kv2.1 K⁺Channel as a Major Component of the Delayed Rectifier K⁺Current in Rat Hippocampal Neurons

1999 • 298 citations

Doublecortin, a Stabilizer of Microtubules

1999 • 263 citations

Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

1998 • 214 citations

A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33

1999 • 211 citations

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

1999 • 201 citations

Functional Expression of Two KvLQT1-related Potassium Channels Responsible for an Inherited Idiopathic Epilepsy

1998 • 199 citations

Human γ-aminobutyric acid type B receptors are differentially expressed and regulate inwardly rectifying K ⁺ channels

1998 • 169 citations

Mechanisms underlying epileptogenesis in cortical malformations

1999 • 165 citations

Localization of a Gene for Benign Adult Familial Myoclonic Epilepsy to Chromosome 8q23.3-q24.1

1999 • 158 citations

Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

1999 • 155 citations

The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3

1998 • 144 citations

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

1999 • 138 citations

Cortical Malformations and Epilepsy: New Insights from Animal Models

1999 • 136 citations

Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33

1999 • 136 citations

Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q

1999 • 133 citations

Mutated Nicotinic Receptors Responsible for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy are More Sensitive to Carbamazepine

1999 • 133 citations

Childhood Absence Epilepsy with Tonic-Clonic Seizures and Electroencephalogram 3–4-Hz Spike and Multispike–Slow Wave Complexes: Linkage to Chromosome 8q24

1998 • 132 citations

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

1998 • 128 citations

Excitatory But Not Inhibitory Synaptic Transmission Is Reduced in Lethargic (Cacnb4^lh) and Tottering (Cacna1a^tg) Mouse Thalami

1999 • 126 citations

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

1999 • 90 citations

Single gene defects in mice: the role of voltage-dependent calcium channels in absence models

1999 • 88 citations

Neuronal migration disorders: Heterotopic neocortical neurons in CA1 provide a bridge between the hippocampus and the neocortex

1998 • 86 citations

Ataxic mouse mutantsand molecular mechanisms of absence epilepsy

1999 • 58 citations

Evidence for Linkage of Adolescent-Onset Idiopathic Generalized Epilepsies to Chromosome 8—and Genetic Heterogeneity

1999 • 57 citations

Mapping, genomic structure, and polymorphisms of the human GABA B R1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy

1998 • 55 citations

Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy

1999 • 43 citations

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

1999 • 42 citations

THE RESEMBLANCE BETWEEN TWINS, A STATISTICAL EXAMINATION OF LAUTERBACH'S MEASUREMENTS

1925 • 41 citations

Confirmation of linkage in X‐linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3‐Xp22.1

1999 • 41 citations

Functional Characterization of a Novel Mutation in KCNA1 in Episodic Ataxia Type 1 Associated with Epilepsy

1999 • 36 citations

Mapping Quantitative Trait Loci for Seizure Response to a GABA_AReceptor Inverse Agonist in Mice

1999 • 31 citations

Regulation of Calcium Channel α1A Subunit Splice Variant mRNAs in Kainate-Induced Temporal Lobe Epilepsy

1999 • 27 citations

The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy

1999 • 26 citations

Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14

1999 • 20 citations

Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility to idiopathic generalized epilepsy

1999 • 15 citations

Replication Analysis of a Putative Susceptibility Locus (EGI) for Idiopathic Generalized Epilepsy on Chromosome 8q24

1998 • 15 citations

397 The clinical phenotype of a child with a novel calcium channel gene (CACNA1A) mutation associated with episodic ataxia type 2 and absence epilepsy

1999 • 2 citations