The impact of molecular biology on clinical neurology. [PDF]
, 2001 Advances in molecular biology have increased our understanding of both inherited and sporadic forms of neurological disease. In this review, the impact of these advances is discussed in relation to specific neurological conditions.
Ho, SL, Mak, W
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Pathophysiological Role of Omega Pore Current in Channelopathies [PDF]
, 2012 In voltage-gated cation channels, a recurrent pattern for mutations is the neutralization of positively charged residues in the voltage-sensing S4 transmembrane segments.
Groome, James +2 more
core +3 more sources
Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). [PDF]
, 2001 Voltage-gated potassium channels provide tightly Controlled, ion-specific pathways across membranes and are key to the normal function of nerves muscles. They arise from the assembly of four pore-forming proteins called alpha-subunits.
Abbott, GW, Goldstein, SA
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Mexiletine (NaMuscla) for the treatment of myotonia in non-dystrophic myotonic disorders [PDF]
, 2020 Introduction: NaMuscla, (mexiletine), is the first licensed treatment for the Non-Dystrophic Myotonias (NDM). NDM are categorized by genetic ion channel dysfunction and cause significant morbidity.
Hanna, MG +3 more
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In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis [PDF]
, 2020 OBJECTIVE: Hypokalaemic periodic paralysis (HypoPP) is caused by mutations of Cav1.1, and Na_{v}1.4 which result in an aberrant gating pore current. Hyperkalaemic periodic paralysis (HyperPP) is due to a gain-of-function mutation of the main alpha pore ...
Bostock, H +5 more
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Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family [PDF]
, 1994 The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC pheno-type) or changes in ...
G. Meola +3 more
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Improving genetic diagnostics of skeletal muscle channelopathies [PDF]
, 2020 Introduction: Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk.
Hanna, MG +3 more
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Sodium channelopathies of skeletal muscle result from gain or loss of function [PDF]
, 2010 Karin Jurkat-Rott +3 more
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Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches [PDF]
, 2020 Voltage-gated sodium channels are essential for excitability of skeletal muscle fibres and neurons. An increasing number of disabling or fatal paediatric neurological disorders linked to mutations of voltage-gated sodium channel genes are recognised ...
Balestrini, S +3 more
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