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Channelopathies

Type: Article Author: Editor CNKE Category: Knowledge Maps Language: *
Channelopathies are a group of disorders caused by dysfunctions in ion channels, which are proteins embedded in cell membranes that regulate the flow of ions (such as sodium, potassium, calcium, and chloride) across the membrane. These ion channels are...
31 December 2024
https://cnke.org/knowledge-maps/196

Channelopathies

Type: Tag Author: Editor CNKE Language: *
https://cnke.org/topics/channelopathies

Ion channel disorders

Type: Article Author: Editor CNKE Category: Articles Language: *
Ion channel disorders, or channelopathies, are a group of conditions that involve dysfunctions in ion channels—integral membrane proteins regulating the flow of ions across cellular membranes. In skeletal muscle, these disorders variably produce...
04 January 2025
https://cnke.org/articles/231

PRRT2-Associated Disorders

Type: Article Author: Editor CNKE Category: Articles Language: * Editor:
Editor(s)
fully reverted by reintroduction of wild-type PRRT2. Suggests a mechanistic crossover between synapthopathies and channelopathies in paroxysmal neurological disorders. Mutations in SCN8A (encoding Nav1.6) can also cause PxD with epilepsy. Brain...
04 June 2024
https://cnke.org/articles/274

Schwartz-Jampel Syndrome (SJS)

Type: Article Author: Editor CNKE Category: Articles Language: * Editor:
Editor(s)
Muscular dystrophies (Becker dystrophy, Duchenne dystrophy, congenital muscular dystrophy) Congenital myopathies Channelopathies Mucopolysaccharidosis (Morquio's syndrome) Ehlers-Danlos Syndrome Malignant hyperthermia Blepharospasm Stuve-Wiedemann...
10 June 2024
https://cnke.org/articles/328

Neuromuscular disorders in children

Type: Article Author: Editor CNKE Category: Knowledge Maps Language: *
Disorders Myotonic Dystrophy Type 1 (DM1, Steinert Disease) Myotonic Dystrophy Type 2 Disorders of Ion Channels (Channelopathies) Periodic Paralyses Hypokalemic Periodic Paralysis Hyperkalemic Periodic Paralysis Andersen-Tawil Syndrome Congenital...
31 December 2024
https://cnke.org/knowledge-maps/195

Muscle Conditions with Myotonia or Myotonia-like Symptoms

Type: Article Author: Editor CNKE Category: Knowledge Maps Language: *
Muscle Conditions: Myotonic Dystrophy Type 1 (DM1) Myotonic Dystrophy Type 2 (DM2) Non-Dystrophic Muscle Conditions (Channelopathies): Chloride Channel (CLCN1) Disorders: Myotonia Congenita: Thomsen Disease (AD) Becker Disease (AR) Sodium Channel...
04 January 2025
https://cnke.org/knowledge-maps/230

Peripheral Nerve Hyperexcitability Syndromes

Type: Article Author: Editor CNKE Category: Articles Language: *
Autoimmune Etiology: Commonly associated with VGKC antibodies. Genetic Contributions: Rare cases linked to ion channelopathies (e.g., SCN4A, KCNA1 mutations). Management Treatment focuses on the underlying etiology and symptom control: Autoimmune...
04 January 2025
https://cnke.org/articles/234

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