Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

(2018) Jean Chemin et al.   BRAIN

De novo variants in neurodevelopmental disorders with epilepsy

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

Progress in Understanding and Treating SCN2A -Mediated Disorders

(2018) Stephan J. Sanders et al.   TRENDS IN NEUROSCIENCES

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

(2018) Ingo Helbig et al.   HUMAN MUTATION

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

(2017) Alexandra Pinggera et al.   HUMAN MOLECULAR GENETICS

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

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

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

(2016) Monkol Lek et al.   NATURE

A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 channel activity

(2016) A. Andrade et al.   Scientific Reports

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

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

TheCACNA1BR1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

(2015) Niccolo E. Mencacci et al.   HUMAN MOLECULAR GENETICS

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

(2015) Nara Sobreira et al.   HUMAN MUTATION

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

(2014) J. L. Groen et al.   HUMAN MOLECULAR GENETICS

CaV2.3 Channels Are Critical for Oscillatory Burst Discharges in the Reticular Thalamus and Absence Epilepsy

(2011) Tariq Zaman et al.   NEURON