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Stephanie Valence et al.
GENETICS IN MEDICINE (2019)
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
Sorina M. Papuc et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
Zeynep Coban-Akdemir et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Phenotypic expansion illuminates multilocus pathogenic variation
Ender Karaca et al.
GENETICS IN MEDICINE (2018)
Relevance of tissue specific subunit expression in channelopathies
Hartwig Seitter et al.
NEUROPHARMACOLOGY (2018)
Purkinje Cell Signaling Deficits in Animal Models of Ataxia
Eriola Hoxha et al.
FRONTIERS IN SYNAPTIC NEUROSCIENCE (2018)
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
Ingrid E. Scheffer et al.
EPILEPSIA (2017)
Models for discovery of targeted therapy in genetic epileptic encephalopathies
Snezana Maljevic et al.
JOURNAL OF NEUROCHEMISTRY (2017)
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Xi Luo et al.
PLOS GENETICS (2017)
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
Katherine L. Helbig et al.
GENETICS IN MEDICINE (2016)
The genetic landscape of the epileptic encephalopathies of infancy and childhood
Amy McTague et al.
LANCET NEUROLOGY (2016)
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
Sarah Vergult et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential
Gerald W. Zamponi et al.
PHARMACOLOGICAL REVIEWS (2015)
The hidden genetics of epilepsy-a clinically important new paradigm
Rhys H. Thomas et al.
NATURE REVIEWS NEUROLOGY (2014)
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy
Simon Edvardson et al.
JOURNAL OF MEDICAL GENETICS (2013)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
NATURE (2013)
A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy
Tommaso Pippucci et al.
PLOS ONE (2013)
Ca2+ channel α2-δ ligands for the treatment of neuropathic pain
Mark J. Field et al.
JOURNAL OF MEDICINAL CHEMISTRY (2007)
entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse
J Brill et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Animal model - Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene
SV Ivanov et al.
AMERICAN JOURNAL OF PATHOLOGY (2004)
The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated α2δ-2 protein with abnormal function
J Brodbeck et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Tissue-specific expression and gabapentin-binding properties of calcium channel α28 subunit subtypes
HC Gong et al.
JOURNAL OF MEMBRANE BIOLOGY (2001)
Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells
J Barclay et al.
JOURNAL OF NEUROSCIENCE (2001)