Both gain‐of‐function and loss‐of‐function de novo CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

Post-translational dysfunctions in channelopathies of the nervous system

(2018) Benedetta Terragni et al.   NEUROPHARMACOLOGY

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

(2017) Lorena Travaglini et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients

(2017) Davide Mei et al.   Molecular Diagnosis & Therapy

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

(2016) Candace T. Myers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Model systems for studying cellular mechanisms of SCN1A-related epilepsy

(2016) Soleil S. Schutte et al.   JOURNAL OF NEUROPHYSIOLOGY

Isolated P/Q Calcium Channel Deletion in Layer VI Corticothalamic Neurons Generates Absence Epilepsy

(2016) V. C. Bomben et al.   JOURNAL OF NEUROSCIENCE

Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution

(2016) Jianping Wu et al.   NATURE

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

(2016) Monkol Lek et al.   NATURE

A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant

(2016) Shehrazade Dahimene et al.   NEUROBIOLOGY OF DISEASE

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

(2015) Lena Damaj et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

The I-TASSER Suite: protein structure and function prediction

(2015) Jianyi Yang et al.   NATURE METHODS

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

(2015) Giulia Bechi et al.   NEUROBIOLOGY OF DISEASE

De novoKCNB1mutations in epileptic encephalopathy

(2014) Ali Torkamani et al.   ANNALS OF NEUROLOGY

Clinical management of epileptic encephalopathies of childhood and infancy

(2014) Athanasios Covanis   Expert Review of Neurotherapeutics

The genetic landscape of infantile spasms

(2014) Jacques L. Michaud et al.   HUMAN MOLECULAR GENETICS

Synaptic Gain-of-Function Effects of Mutant Cav2.1 Channels in a Mouse Model of Familial Hemiplegic Migraine Are Due to Increased Basal [Ca2+]i

(2014) M. N. Di Guilmi et al.   JOURNAL OF NEUROSCIENCE

CaV2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures

(2013) Elsa Rossignol et al.   ANNALS OF NEUROLOGY

Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy

(2013) Gökce Orhan et al.   ANNALS OF NEUROLOGY

The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels

(2013) Edgar Garza-López et al.   CEPHALALGIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Differential Association of Receptor-G   Complexes with  -Arrestin2 Determines Recycling Bias and Potential for Tolerance of Delta Opioid Receptor Agonists

(2012) N. Audet et al.   JOURNAL OF NEUROSCIENCE

Genetics of early-onset epilepsy with encephalopathy

(2012) Rima Nabbout et al.   Nature Reviews Neurology

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraine

(2010) Daniela Pietrobon   JOURNAL OF PHYSIOLOGY-LONDON

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

(2010) Sanjeev Rajakulendran et al.   JOURNAL OF PHYSIOLOGY-LONDON

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

(2010) Elide Mantuano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

High cortical spreading depression susceptibility and migraine-associated symptoms in Cav2.1 S218L mice

(2009) Arn M. J. M. van den Maagdenberg et al.   ANNALS OF NEUROLOGY

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation

(2009) A H Stam et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation

(2008) Yee-Cheun Chan et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Alternative Splicing of the Ca2+ Channel  4 Subunit Confers Specificity for Gabapentin Inhibition of Cav2.1 Trafficking

(2008) P. M. Mich et al.   MOLECULAR PHARMACOLOGY