Eye movement disorders are an early manifestation ofCACNA1Amutations in children

Novel CACNA1A mutation(s) associated with slow saccade velocities

(2013) Stefan Kipfer et al.   JOURNAL OF NEUROLOGY

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Screening ofCACNA1AandATP1A2genes in hemiplegic migraine: clinical, genetic, and functional studies

(2013) Oriel Carreño et al.   Molecular Genetics & Genomic Medicine

Sporadic hemiplegic migraine presenting as acute encephalopathy

(2012) Kayo Ohmura et al.   BRAIN & DEVELOPMENT

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Variable Manifestations of Familial Hemiplegic Migraine Associated With Reversible Cerebral Edema in Children

(2012) Sheila J. Asghar et al.   PEDIATRIC NEUROLOGY

Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation

(2012) José Barros et al.   JAMA Neurology

Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management

(2011) Michael Bjørn Russell et al.   LANCET NEUROLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation

(2010) Lubov Blumkin et al.   JOURNAL OF CHILD NEUROLOGY

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine

(2010) F. Riant et al.   NEUROLOGY

Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Ca v 2.1 Responds to Verapamil

(2010) Ellen Knierim et al.   STROKE

Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation

(2009) Timothy J Malpas et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood

(2009) P Bertholon et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Impaired Eye Movements in Presymptomatic Spinocerebellar Ataxia Type 6

(2008) Peka Christova et al.   ARCHIVES OF NEUROLOGY

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family

(2008) A. Roubertie et al.   JOURNAL OF NEUROLOGY