The electrophysiological footprint of CACNA1A disorders

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

(2020) Rosaria Nardello et al.   BMC Neurology

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

(2020) Claudia Stendel et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature

(2018) E. Indelicato et al.   EUROPEAN JOURNAL OF NEUROLOGY

Voltage-Dependent Calcium Channels, Calcium Binding Proteins, and Their Interaction in the Pathological Process of Epilepsy

(2018) Jie-Hua Xu et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation

(2017) Xiaoping Du et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells

(2017) Carlo Bavassano et al.   STEM CELLS AND DEVELOPMENT

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

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

Eye movement disorders are an early manifestation ofCACNA1Amutations in children

(2016) Esther M Tantsis et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

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

Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A

(2015) Jae-Hwan Choi et al.   NEUROLOGICAL SCIENCES

ILAE Official Report: A practical clinical definition of epilepsy

(2014) Robert S. Fisher et al.   EPILEPSIA

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature

(2014) Wolfgang Nachbauer et al.   JOURNAL OF NEUROLOGY

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

(2014) Nuria García Segarra et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up

(2013) R Topakian et al.   CEPHALALGIA

Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2

(2013) Kwang-Dong Choi et al.   NEUROLOGICAL SCIENCES

May a suspicious psychiatric disorder hide sporadic hemiplegic migraine? Genetic test as prompting factor for diagnosis

(2013) C. Liguori et al.   NEUROLOGICAL SCIENCES

Possible Effect of Corticoids on Hemiplegic Attacks in Severe Hemiplegic Migraine

(2013) Iciar Sánchez-Albisua et al.   PEDIATRIC NEUROLOGY

Sporadic hemiplegic migraine presenting as acute encephalopathy

(2012) Kayo Ohmura et al.   BRAIN & DEVELOPMENT

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS

(2012) Sanjeev Rajakulendran et al.   Nature Reviews Neurology

Clinical Reasoning: A middle-aged man with episodes of gait imbalance and a newly found genetic mutation

(2012) M. S. Yugrakh et al.   NEUROLOGY

Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation

(2011) Oriel Carreño et al.   HEADACHE

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

(2011) Michael Bjørn Russell et al.   LANCET NEUROLOGY

Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With CACNA1A S218L Mutation

(2011) Sawako Yamazaki et al.   PEDIATRIC NEUROLOGY

Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation

(2010) Andro Zangaladze et al.   EPILEPSY & BEHAVIOR

Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study

(2010) Julien Jung et al.   EUROPEAN NEUROLOGY

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

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

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

(2010) R. Romaniello et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

(2010) F. Riant et al.   NEUROLOGY

The FHM1 Mutation S218L: A Severe Clinical Phenotype? A Case Report and Review of the Literature

(2009) S Debiais et al.   CEPHALALGIA

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine

(2009) AH Stam et al.   CLINICAL GENETICS

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

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

(2009) R W Labrum et al.   JOURNAL OF MEDICAL GENETICS

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

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene

(2009) Ester Cuenca-León et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Identification of CACNA1A large deletions in four patients with episodic ataxia

(2009) Florence Riant et al.   NEUROGENETICS

CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood

(2008) B de Vries et al.   CEPHALALGIA

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