Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia
Epilepsia OpenObjectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in ...
Mariagrazia Talarico +12 more
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A Rare Case of Becker Disease in a 7 Year Old Boy [PDF]
, 2017 Becker Disease is an autosomal recessive version of the rare congenital disorder called Myotonia Congenita. Due to the rarity of Becker Disease, the genetic and pathological basis of this disease have not been studied well and possible diagnostic methods
Arain, Fazal M. +2 more
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Muscle channelopathies and electrophysiological approach
Annals of Indian Academy of Neurology, 2008 Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith +2 more
doaj
Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field
Frontiers in Neurology, 2020 Lorenzo Maggi +3 more
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Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita
Journal of the Korean Neurological Association, 2016 Jin-Sung Park +2 more
openaire +1 more source
Autosomal Recessive Becker's Form of Myotonia Congenita in Indian Families. [PDF]
CureusKrovvidi S +4 more
europepmc +1 more source
Analysis of the differential transcriptome expression profiles during prenatal muscle tissue development in Diqing Tibetan pigs. [PDF]
Front Vet SciLuo S +5 more
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Novel Lys215Asn mutation in an Italian family with Thomsen myotonia [PDF]
, 2018 A. Rigamonti +5 more
core +1 more source
Role of voltage-gated chloride channels in epilepsy: current insights and future directions. [PDF]
Front PharmacolNi MM, Sun JY, Li ZQ, Qiu JC, Wu CF.
europepmc +1 more source