CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder

(2020) Laurence Gauquelin et al.   NEUROLOGY

Cognitive impairment in children with CACNA 1A mutations

(2019) Veronique Humbertclaude et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2019) Xiao Jiang et al.   EPILEPSIA

The epileptology of alternating hemiplegia of childhood

(2019) Julie Uchitel et al.   NEUROLOGY

Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms

(2019) Qing-Long Miao et al.   BRAIN

Comparison of magnetic resonance spectroscopy (MRS) with arterial spin labeling (ASL) in the differentiation between mitochondrial encephalomyopathy, lactic Acidosis, plus stroke-like episodes (MELAS) and acute ischemic stroke (AIS)

(2018) Xiaodi Li et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

(2018) Chloé Angelini et al.   European Journal of Medical Genetics

Brainstem spreading depolarization and cortical dynamics during fatal seizures in Cacna1a S218L mice

(2018) Inge C M Loonen et al.   BRAIN

Instruction manual for the ILAE 2017 operational classification of seizure types

(2017) Robert S. Fisher et al.   EPILEPSIA

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

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

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

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

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

(2016) Francesca Camia et al.   CEPHALALGIA

Stroke-like episodes, peri-episodic seizures, and MELAS mutations

(2016) Josef Finsterer et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant

(2016) Heather M. Byers et al.   PEDIATRIC NEUROLOGY

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

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

Targeting voltage-gated calcium channels in neurological and psychiatric diseases

(2015) Gerald W. Zamponi   NATURE REVIEWS DRUG DISCOVERY

Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population

(2015) Nan Lv et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

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

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

(2010) W. G. Leen et al.   BRAIN

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

(2010) Julien Jung et al.   EUROPEAN NEUROLOGY

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

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

CaV2.1 channelopathies

(2010) Daniela Pietrobon   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

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

(2010) Ellen Knierim et al.   STROKE

Definition of refractory epilepsy: defining the indefinable?

(2009) Patrick Kwan et al.   LANCET NEUROLOGY

Antiepileptic Drugs on Calcium Currents Recorded from Cortical and PAG Neurons: Therapeutic Implications for Migraine

(2008) G Martella et al.   CEPHALALGIA

CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood

(2008) B de Vries et al.   CEPHALALGIA

Stepwise Developmental Regression Associated With Novel CACNA1A Mutation

(2008) Andrea A. Guerin et al.   PEDIATRIC NEUROLOGY