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 crucial for various cellular processes, including generating electrical signals in nerve, muscle, and other excitable tissues.
Periodic Paralyses
Hypokalemic Periodic Paralysis (HKPP)
Caused by mutations in CACNA1S (calcium channel gene)
Triggers: high carbohydrate meals, rest after exercise
Hyperkalemic Periodic Paralysis (HyperKPP)
Caused by mutations in SCN4A (sodium channel gene)
Triggers: fasting, exercise, potassium-rich foods
Andersen-Tawil Syndrome
Mutations in KCNJ2 (potassium channel gene)
Features: periodic paralysis, ventricular arrhythmias, dysmorphic features
Congenital Myotonias
Thomsen Disease
Autosomal dominant mutation in CLCN1 (chloride channel gene)
Features: muscle stiffness without weakness
Becker Disease
Autosomal recessive mutation in CLCN1
Features: more severe myotonia than Thomsen disease
Paramyotonia Congenita
Caused by mutations in SCN4A
Features: cold-induced muscle stiffness
Malignant Hyperthermia Susceptibility
Caused by mutations in RYR1 (ryanodine receptor) or CACNA1S
Triggered by volatile anesthetics or depolarizing muscle relaxants
Epilepsy Syndromes
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Mutations in SCN1A, SCN2A, or GABRG2
Dravet Syndrome
Caused by mutations in SCN1A
Features: intractable seizures, developmental delay
Benign Familial Neonatal Epilepsy
Mutations in KCNQ2 or KCNQ3 (potassium channels)
Features: self-limiting neonatal seizures
Childhood Absence Epilepsy
Associated with CACNA1H (calcium channel mutations)
Migraine Syndromes
Familial Hemiplegic Migraine (FHM)
Type 1: CACNA1A mutation
Type 2: ATP1A2 mutation
Type 3: SCN1A mutation
Ataxia Syndromes
Episodic Ataxia Type 1
Caused by KCNA1 (potassium channel mutation)
Features: ataxia with myokymia
Episodic Ataxia Type 2
Caused by CACNA1A mutation
Features: ataxia with vertigo
Neurodevelopmental Disorders
KCNQ2 Encephalopathy
Mutations in KCNQ2 (potassium channel gene)
Features: early-onset epilepsy and severe developmental delay
SCN2A Encephalopathy
Mutations in SCN2A (sodium channel gene)
Features: severe epileptic encephalopathy
Long QT Syndromes (LQTS)
LQT1: Mutations in KCNQ1 (potassium channel)
LQT2: Mutations in KCNH2 (potassium channel)
LQT3: Mutations in SCN5A (sodium channel)
Brugada Syndrome
Mutations in SCN5A (sodium channel)
Features: ventricular arrhythmias, sudden cardiac death
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Type 1: Mutations in RYR2 (ryanodine receptor)
Type 2: Mutations in CASQ2 (calcium-handling protein)
Short QT Syndrome
Mutations in KCNH2, KCNJ2, or CACNA1C
Inherited Erythromelalgia
Mutations in SCN9A (sodium channel)
Features: severe burning pain triggered by warmth
Paroxysmal Extreme Pain Disorder
Mutations in SCN9A
Features: episodic severe rectal, ocular, or jaw pain
Congenital Insensitivity to Pain
Mutations in SCN9A or TRKA (nerve growth factor receptor)
Features: absence of pain perception
Small Fiber Neuropathy
Associated with SCN9A or SCN10A mutations
Features: burning pain, dysautonomia
Congenital Hyperinsulinism
Mutations in ABCC8 or KCNJ11 (potassium channels in beta cells)
Features: persistent hypoglycemia
Familial Hypocalciuric Hypercalcemia
Mutations in CASR (calcium-sensing receptor)
Bartter Syndrome
Type 1: Mutations in SLC12A1 (sodium-potassium-chloride cotransporter)
Type 3: Mutations in CLCNKB (chloride channel)
Cystic Fibrosis
Mutations in CFTR (chloride channel)
Features: pulmonary and gastrointestinal involvement
Andersen-Tawil Syndrome
Potassium channelopathy with systemic features
Hypomagnesemia
TRPM6/TRPM7 mutations affecting magnesium reabsorption
Information Published: 31 December 2024 Last Updated: 08 January 2025
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