Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations

(2017) Wenyu Liu et al.   EPILEPSY RESEARCH

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

(2016) Julie Jerber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

(2016) Sarah Weckhuysen et al.   EPILEPSIA

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

(2016) Loïc Broix et al.   NATURE GENETICS

Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function

(2016) Baptiste Fischer et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function

(2016) Baptiste Fischer et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry

(2016) Bonnie Nijhof et al.   PLoS Computational Biology

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

(2016) Johanna Jakobsdottir et al.   PLoS Genetics

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface

(2015) Gagan D. Gupta et al.   CELL

A Human Interactome in Three Quantitative Dimensions Organized by Stoichiometries and Abundances

(2015) Marco Y. Hein et al.   CELL

The BioPlex Network: A Systematic Exploration of the Human Interactome

(2015) Edward L. Huttlin et al.   CELL

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

(2015) Sali M K Farhan et al.   JOURNAL OF MEDICAL GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

(2015) Lily Paemka et al.   PLoS Genetics

A Proteome-Scale Map of the Human Interactome Network

(2014) Thomas Rolland et al.   CELL

TMTC1 and TMTC2 Are Novel Endoplasmic Reticulum Tetratricopeptide Repeat-containing Adapter Proteins Involved in Calcium Homeostasis

(2014) Johan C. Sunryd et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current

(2014) Ryan J. Schutte et al.   JOURNAL OF NEUROPHYSIOLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

The BioGRID interaction database: 2015 update

(2014) Andrew Chatr-aryamontri et al.   NUCLEIC ACIDS RESEARCH

prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies

(2014) S. N. Ehaideb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome Sequencing: New Insights into Lipoprotein Disorders

(2014) Sali M. K. Farhan et al.   Current Cardiology Reports

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

(2013) Valerio Conti et al.   BRAIN

Drosophila as a Model for Intractable Epilepsy: Gilgamesh Suppresses Seizures in para bss1 Heterozygote Flies

(2013) Iris C. Howlett et al.   G3-Genes Genomes Genetics

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

A GAL4-Driver Line Resource for Drosophila Neurobiology

(2012) Arnim Jenett et al.   Cell Reports

Molecular Genetics of Neuronal Migration Disorders

(2011) Judy S. Liu   Current Neurology and Neuroscience Reports

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Involvement of SMILE/TMTC3 in Endoplasmic Reticulum Stress Response

(2011) Maud Racapé et al.   PLoS One

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The developmental transcriptome of Drosophila melanogaster

(2010) Brenton R. Graveley et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

(2008) Russell J. Ferland et al.   HUMAN MOLECULAR GENETICS

L-Measure: a web-accessible tool for the analysis, comparison and search of digital reconstructions of neuronal morphologies

(2008) Ruggero Scorcioni et al.   Nature Protocols

From bench to drug: Human seizure modeling using Drosophila

(2007) J SONG et al.   PROGRESS IN NEUROBIOLOGY