[HTML][HTML] From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing
E Indelicato, S Boesch - Frontiers in Neurology, 2021 - frontiersin.org
Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A
classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for …
classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for …
Primary episodic ataxias: diagnosis, pathogenesis and treatment
JC Jen, TD Graves, EJ Hess, MG Hanna, RC Griggs… - Brain, 2007 - academic.oup.com
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks
of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the …
of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the …
Vertigo and dizziness
The last 10 years following the fi rst edition of our book have witnessed many new findings
on epidemiology, diagnostics, pathophysiology, and–especially important–the course and …
on epidemiology, diagnostics, pathophysiology, and–especially important–the course and …
Consensus paper: management of degenerative cerebellar disorders
Abstract Treatment of motor symptoms of degenerative cerebellar ataxia remains difficult.
Yet there are recent developments that are likely to lead to significant improvements in the …
Yet there are recent developments that are likely to lead to significant improvements in the …
What clinical disorders tell us about the neural control of saccadic eye movements
Saccades are rapid eye movements that redirect the fovea from one object to another. A
great deal has been learned about the anatomy and physiology of saccades, making them …
great deal has been learned about the anatomy and physiology of saccades, making them …
[HTML][HTML] Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia
LN Miterko, T Lin, J Zhou, ME van der Heijden… - Nature …, 2021 - nature.com
Deep brain stimulation (DBS) relieves motor dysfunction in Parkinson's disease, and other
movement disorders. Here, we demonstrate the potential benefits of DBS in a model of …
movement disorders. Here, we demonstrate the potential benefits of DBS in a model of …
Paroxysmal dyskinesias
KP Bhatia - Movement Disorders, 2011 - Wiley Online Library
Paroxysmal movement disorders are a relatively rare and heterogenous group of conditions
manifesting as episodic dyskinesia lasting a brief duration. Three forms are clearly …
manifesting as episodic dyskinesia lasting a brief duration. Three forms are clearly …
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias
Objective: The therapeutic effects of 4-aminopyridine (4AP) were investigated in a
randomized, double-blind, crossover trial in 10 subjects with familial episodic ataxia with …
randomized, double-blind, crossover trial in 10 subjects with familial episodic ataxia with …
[HTML][HTML] Diagnosis and treatment of vertigo and dizziness
Results A careful history remains the cornerstone of diagnosis. Once the correct diagnosis is
made, specific and effective treatments are available for most peripheral, central, and …
made, specific and effective treatments are available for most peripheral, central, and …
[HTML][HTML] Pharmacotherapy of vestibular and ocular motor disorders, including nystagmus
We review current pharmacological treatments for peripheral and central vestibular
disorders, and ocular motor disorders that impair vision, especially pathological nystagmus …
disorders, and ocular motor disorders that impair vision, especially pathological nystagmus …