A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

Presynaptic α2δ-2 calcium channel subunits regulate postsynaptic GABAA-receptor abundance and axonal wiring

(2019) Stefanie Geisler et al.   JOURNAL OF NEUROSCIENCE

Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects

(2019) Marcin M. Gorski et al.   HAEMATOLOGICA

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

(2019) Henrike O. Heyne et al.   GENETICS IN MEDICINE

Genetics of intellectual disability in consanguineous families

(2018) Hao Hu et al.   MOLECULAR PSYCHIATRY

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

STAC proteins associate to the IQ domain of CaV1.2 and inhibit calcium-dependent inactivation

(2018) Marta Campiglio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

UBTOR/KIAA1024 regulates neurite outgrowth and neoplasia through mTOR signaling

(2018) Hefei Zhang et al.   PLoS Genetics

Rap2 and TNIK control Plexin-dependent tiled synaptic innervation in C. elegans

(2018) Xi Chen et al.   eLife

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

(2018) Frederike L. Harms et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the genetic heterogeneity of intellectual disability

(2017) Shams Anazi et al.   HUMAN GENETICS

The β 4 subunit of the voltage-gated calcium channel (Cacnb4) regulates the rate of cell proliferation in Chinese Hamster Ovary cells

(2017) Mohamad Rima et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Molecular mimicking of C-terminal phosphorylation tunes the surface dynamics of CaV1.2 calcium channels in hippocampal neurons

(2017) Alessandra Folci et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Down-regulation of the Wnt/β-catenin signaling pathway by Cacnb4

(2017) Mohamad Rima et al.   MOLECULAR BIOLOGY OF THE CELL

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders

(2017) Jing Li et al.   NATURE NEUROSCIENCE

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BiallelicCACNA1Amutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

(2016) Karit Reinson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss of the calcium channel β4subunit impairs parallel fibre volley and Purkinje cell firing in cerebellum of adult ataxic mice

(2016) Bruno Benedetti et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

A null mutation in TNIK defines a novel locus for intellectual disability

(2016) Shams Anazi et al.   HUMAN GENETICS

Mutational Spectrum ofMYO15Aand the Molecular Mechanisms of DFNB3 Human Deafness

(2016) Atteeq U. Rehman et al.   HUMAN MUTATION

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Splice variants of the CaV1.3 L-type calcium channel regulate dendritic spine morphology

(2016) Ruslan Stanika et al.   Scientific Reports

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

(2015) Maja Hempel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic Exome Sequencing Identifies a Novel Gene,EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease

(2015) Alessandra Capuano et al.   HUMAN MUTATION

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Role of Auxiliary Subunits for the Functional Diversity of Voltage-Gated Calcium Channels

(2015) Marta Campiglio et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

The juvenile myoclonic epilepsy mutant of the calcium channel β4subunit displays normal nuclear targeting in nerve and muscle cells

(2014) Solmaz Etemad et al.   Channels

A missense mutation in the splicing factor geneDHX38is associated with early-onset retinitis pigmentosa with macular coloboma

(2014) Muhammad Ajmal et al.   JOURNAL OF MEDICAL GENETICS

Differential Neuronal Targeting of a New and Two Known Calcium Channel  4 Subunit Splice Variants Correlates with Their Regulation of Gene Expression

(2014) S. Etemad et al.   JOURNAL OF NEUROSCIENCE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Nuclear life of the voltage-gated Cacnb4 subunit and its role in gene transcription regulation

(2013) Michel Ronjat et al.   Channels

Stable incorporation versus dynamic exchange of   subunits in a native Ca2+ channel complex

(2013) M. Campiglio et al.   JOURNAL OF CELL SCIENCE

Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy

(2012) Abir Tadmouri et al.   EMBO JOURNAL

TNiK Is Required for Postsynaptic and Nuclear Signaling Pathways and Cognitive Function

(2012) M. P. Coba et al.   JOURNAL OF NEUROSCIENCE

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

(2012) Johannes Schindelin et al.   NATURE METHODS

Delayed Postnatal Loss of P/Q-Type Calcium Channels Recapitulates the Absence Epilepsy, Dyskinesia, and Ataxia Phenotypes of Genomic Cacna1A Mutations

(2011) M. D. Mark et al.   JOURNAL OF NEUROSCIENCE

Voltage-Gated Calcium Channels

(2011) W. A. Catterall   Cold Spring Harbor Perspectives in Biology

Traf2- and Nck-Interacting Kinase Is Essential for Wnt Signaling and Colorectal Cancer Growth

(2010) Miki Shitashige et al.   CANCER RESEARCH

Activity and calcium regulate nuclear targeting of the calcium channel beta4b subunit in nerve and muscle cells

(2010) Prakash Subramanyam et al.   Channels

Long form of latent TGF-β binding protein 1 (Ltbp1L) regulates cardiac valve development

(2010) Vesna Todorovic et al.   DEVELOPMENTAL DYNAMICS

Voltage-activated calcium channel expression profiles in mouse brain and cultured hippocampal neurons

(2010) B. Schlick et al.   NEUROSCIENCE

The β Subunit of Voltage-Gated Ca2+ Channels

(2010) Zafir Buraei et al.   PHYSIOLOGICAL REVIEWS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The kinase TNIK is an essential activator of Wnt target genes

(2009) Tokameh Mahmoudi et al.   EMBO JOURNAL

Reciprocal Interactions Regulate Targeting of Calcium Channel β Subunits and Membrane Expression of α1Subunits in Cultured Hippocampal Neurons

(2009) Gerald J. Obermair et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy

(2008) Iori Ohmori et al.   NEUROBIOLOGY OF DISEASE

Calcium Channel Regulation and Presynaptic Plasticity

(2008) William A. Catterall et al.   NEURON

Channeling into the Epilepsies

(2008) Tracey D. Graves et al.   Epilepsy Currents