Results 31 to 40 of about 7,269 (167)
Arquivos de Neuro-Psiquiatria, 2022 Vestibular migraine (VM) remains an underdiagnosed condition, often mistaken with brainstem aura. VM is defined by recurrent vestibular symptoms in at least 50% of migraine attacks. Diagnosis is established by clinical criteria based on the International
Viviane Passarelli Ramin Silva +2 more
doaj +1 more source
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2
Biomedical Papers, 2017 Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours.
Andrea Petrovicova +10 more
doaj +1 more source
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications
Frontiers in Molecular Neuroscience, 2022 PurposePreviously, mutations in the voltage-gated calcium channel subunit alpha1 A (CACNA1A) gene have been reported to be associated with paroxysmal disorders, typically as episodic ataxia type 2.
Xue-Lian Li +17 more
doaj +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies
Frontiers in Molecular Neuroscience, 2020 The P/Q-type CaV2.1 channel regulates neurotransmitter release at neuromuscular junctions (NMJ) and many central synapses. CACNA1A encodes the pore-containing α1A subunit of CaV2.1 channels.
Sidharth Tyagi +3 more
doaj +1 more source
Case Reports in Neurological Medicine, 2021 CACNA1A encodes the pore-forming α1 subunit of the neuronal voltage-gated Cav2.1 (P/Q-type) channels, which are predominantly localized at the presynaptic terminals of the brain and cerebellar neurons and play an important role in controlling ...
Benjamin Stampfl, Dominic Fee
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon +11 more
wiley +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu +3 more
wiley +1 more source