Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy

(2013) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

(2013) Tommaso Pippucci et al.   PLoS One

Genetic Association, Mutation Screening, and Functional Analysis of a Kozak Sequence Variant in the Metabotropic Glutamate Receptor 3 Gene in Bipolar Disorder

(2013) Radhika Kandaswamy et al.   JAMA Psychiatry

Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders

(2012) Maarten J. Van Den Bossche et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Erratum: Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond

(2012) Annette C. Dolphin   NATURE REVIEWS NEUROSCIENCE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

CACNA1C (Cav1.2) in the pathophysiology of psychiatric disease

(2012) Shambhu Bhat et al.   PROGRESS IN NEUROBIOLOGY

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

(2011) Gaetan Lesca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

(2011) C. Templin et al.   EUROPEAN HEART JOURNAL

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

(2011) Sarah Vergult et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SgD-CNV, a database for common and rare copy number variants in three Asian populations

(2011) Haiyan Xu et al.   HUMAN MUTATION

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

(2011) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death

(2010) Elena Burashnikov et al.   HEART RHYTHM

Identification of Two Critically Deleted Regions within Chromosome Segment 7q35-q36 in EVI1 Deregulated Myeloid Leukemia Cell Lines

(2010) An De Weer et al.   PLoS One

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular fatty acid uptake: a pathway under construction

(2009) Xiong Su et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Piccolo modulation of Synapsin1a dynamics regulates synaptic vesicle exocytosis

(2008) Sergio Leal-Ortiz et al.   JOURNAL OF CELL BIOLOGY

Piccolo regulates dopamine transporter internalization via PIP2

(2008) X Cen et al.   MOLECULAR PSYCHIATRY

Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo

(2008) P F Sullivan et al.   MOLECULAR PSYCHIATRY

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

(2008) Manuel A R Ferreira et al.   NATURE GENETICS

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

(2008) Renzo Guerrini et al.   TRENDS IN NEUROSCIENCES