Channelopathies: A Review - 07/08/11

Doi : 10.1016/j.pediatrneurol.2007.09.007

Genevieve Bernard, MD, MSc , Michael I. Shevell, MD ^†,^⁎
Department of Neurology/Neurosurgery, McGill University, Montreal Children’s Hospital-McGill University Health Center, Montreal, Quebec, Canada
^† Department of Pediatrics, McGill University, Montreal Children’s Hospital-McGill University Health Center, Montreal, Quebec, Canada.

Communications should be addressed to: Dr. Shevell; Department of Pediatrics, Room A-514; Montreal Children’s Hospital; 2300 Tupper; Montreal, Quebec H3H IP3, Canada.

Résumé

Channelopathies are a recently delineated, emerging group of neurologic disorders united by genetically determined defects in ion-channel function. These disorders are characterized by a prominent genetic and phenotypic heterogeneity that can make them challenging and bewildering to understand. This systematic review attempts to categorize these disorders according to their predominant clinical manifestations (i.e., myotonia, weakness, migraine, ataxia, epilepsy, and movement disorders) within the context of what is presently known about the molecular basis of recognized clinical syndromes. Areas of both genetic and phenotypic overlap are highlighted. The review is intended to assist clinicians in enhancing their diagnostic acumen and in targeting specific genetic tests.

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Plan

Introduction

Neurophysiology

Channelopathies: An Overview

Muscle Diseases

Periodic Paralysis and Nondystrophic Myotonias

Hypokalemic Periodic Paralysis (OMIM 170400)

Hyperkalemic Periodic Paralysis (OMIM 170500)

Paramyotonia Congenita (OMIM 168300)

Myotonia Congenita (OMIM 255700 and 160800)

Potassium-Aggravated Myotonia (OMIM 608390)

Andersen-Tawil Syndrome (OMIM 170390)

Malignant Hyperthermia Susceptibility

Central Core Disease (OMIM 11700)

Congenital Myasthenic Syndromes

Brain Diseases

Familial Hemiplegic Migraine (OMIM 141500, 602481, and 609634)

Episodic Ataxias

Episodic Ataxia Type 1 (OMIM 160120)

Episodic Ataxia Type 2 (OMIM 108500)

Spinocerebellar Ataxia Type 6 (OMIM 183086)

Hereditary Hyperekplexia (OMIM 149400)

Autosomal-Dominant Nocturnal Frontal Lobe Epilepsy

Benign Familial Neonatal Convulsions

Benign Familial Neonatal-Infantile Seizures (OMIM 607745)

Generalized Epilepsy With Febrile Seizures-Plus (OMIM 604233)

Severe Myoclonic Epilepsy of Infancy (OMIM 607208)

Juvenile Myoclonic Epilepsy (OMIM 606904)

Benign Adult Familial Myoclonic Epilepsy (OMIM 601068 and 607876)

Childhood Absence Epilepsy (OMIM 607681, 607682, and 600570)

Paroxysmal Kinesiogenic Dyskinesia

Paroxysmal Nonkinesiogenic Dyskinesia

Ring Chromosome 20

Conclusion

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Vol 38 - N° 2

P. 73-85 - février 2008 Retour au numéro

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Channelopathies: A Review - 07/08/11

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