Aberrant sodium channel activity in the complex seizure disorder ofCelf4mutant mice

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

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease

(2012) Oliver D. King et al.   BRAIN RESEARCH

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations and obesity

(2012) Christina Halgren et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment

(2012) Giuseppina Marseglia et al.   European Journal of Medical Genetics

A Mouse Model for MeCP2 Duplication Syndrome: MeCP2 Overexpression Impairs Learning and Memory and Synaptic Transmission

(2012) E. S. Na et al.   JOURNAL OF NEUROSCIENCE

The Rett Syndrome Protein MeCP2 Regulates Synaptic Scaling

(2012) Z. Qiu et al.   JOURNAL OF NEUROSCIENCE

The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders

(2012) Isaac S. Kohane et al.   PLoS One

CELF4 Regulates Translation and Local Abundance of a Vast Set of mRNAs, Including Genes Associated with Regulation of Synaptic Function

(2012) Jacy L. Wagnon et al.   PLoS Genetics

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

Bidirectional relation between schizophrenia and epilepsy: A population-based retrospective cohort study

(2011) Yu-Tzu Chang et al.   EPILEPSIA

Etiology of a genetically complex seizure disorder in Celf4 mutant mice

(2011) J. L. Wagnon et al.   GENES BRAIN AND BEHAVIOR

Local RNA Translation at the Synapse and in Disease

(2011) L. Liu-Yesucevitz et al.   JOURNAL OF NEUROSCIENCE

Abnormal Presynaptic Short-Term Plasticity and Information Processing in a Mouse Model of Fragile X Syndrome

(2011) P.-Y. Deng et al.   JOURNAL OF NEUROSCIENCE

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies

(2011) Francesco Nicita et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins

(2011) Twishasri Dasgupta et al.   Wiley Interdisciplinary Reviews-RNA

A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay

(2010) Sonia Bouquillon et al.   European Journal of Medical Genetics

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

(2010) I. Filges et al.   JOURNAL OF MEDICAL GENETICS

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

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

Axon initial segment dysfunction in epilepsy

(2010) Verena C. Wimmer et al.   JOURNAL OF PHYSIOLOGY-LONDON

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

(2010) Y. Liao et al.   NEUROLOGY

Neurocognitive Phenotypes and Genetic Dissection of Disorders of Brain and Behavior

(2010) Eliza Congdon et al.   NEURON

Molecular Identity of Dendritic Voltage-Gated Sodium Channels

(2010) A. Lorincz et al.   SCIENCE

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

Cell-Type-Dependent Molecular Composition of the Axon Initial Segment

(2009) A. Lorincz et al.   JOURNAL OF NEUROSCIENCE

The ataxia3 Mutation in the N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking

(2009) L. M. Sharkey et al.   JOURNAL OF NEUROSCIENCE

Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation

(2009) Wenqin Hu et al.   NATURE NEUROSCIENCE

The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders

(2009) Sarah J Spence et al.   PEDIATRIC RESEARCH

Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats

(2009) Wayne N. Frankel   TRENDS IN GENETICS

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

(2008) Karen Buysse et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ribonucleoprotein complexes in neurologic diseases

(2008) Jernej Ule   CURRENT OPINION IN NEUROBIOLOGY

RNA-binding proteins and post-transcriptional gene regulation

(2008) Tina Glisovic et al.   FEBS LETTERS

Exaggerated emotional behavior in mice heterozygous null for the sodium channelScn8a(Nav1.6)

(2008) B. C. McKinney et al.   GENES BRAIN AND BEHAVIOR

Role of Axonal NaV1.6 Sodium Channels in Action Potential Initiation of CA1 Pyramidal Neurons

(2008) Michel Royeck et al.   JOURNAL OF NEUROPHYSIOLOGY

RNA-binding proteins in human genetic disease

(2008) Kiven E. Lukong et al.   TRENDS IN GENETICS