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    Channelopathies are diseases caused by genetic mutations that disturb the function of ion channels or proteins that regulate them. They can be congenital due to gene mutations or acquired through autoimmune attack of ion channels. There are many known channelopathies that affect skeletal muscle function, synaptic function, and cardiac function. Some examples include long QT syndrome, Brugada syndrome, Dravet syndrome, and periodic paralyses. Channelopathies are diagnosed and treated depending on the specific ion channel affected.

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    Channelopathies are diseases caused by genetic mutations that disturb the function of ion channels or proteins that regulate them. They can be congenital due to gene mutations or acquired through autoimmune attack of ion channels. There are many known channelopathies that affect skeletal muscle function, synaptic function, and cardiac function. Some examples include long QT syndrome, Brugada syndrome, Dravet syndrome, and periodic paralyses. Channelopathies are diagnosed and treated depending on the specific ion channel affected.

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    9 views3 pages

    Channelopathy: Jump To Navigationjump To Search

    Uploaded by

    marian lupu
    Channelopathies are diseases caused by genetic mutations that disturb the function of ion channels or proteins that regulate them. They can be congenital due to gene mutations or acquired through autoimmune attack of ion channels. There are many known channelopathies that affect skeletal muscle function, synaptic function, and cardiac function. Some examples include long QT syndrome, Brugada syndrome, Dravet syndrome, and periodic paralyses. Channelopathies are diagnosed and treated depending on the specific ion channel affected.

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    of 3

    Channelopathy

    From Wikipedia, the free encyclopedia


    Jump to navigationJump to search

    Channelopathy

    Sodium channel, implicated in channelopathies including Brugada

    syndrome, Long QT syndrome, Dravet syndrome, Paramyotonia

    congenita

    Specialty Medical genetics, Neuromuscular

    medicine, Cardiology

    Symptoms Dependent on type. Include: Syncope, muscle

    weakness, seizures, breathlessness

    Complications Dependent on type. Include: Sudden death

    Causes Genetic variants

    Channelopathies are diseases caused by disturbed function of ion channel subunits or


    the proteins that regulate them.[1][2] These diseases may be either congenital (often
    resulting from a mutation or mutations in the encoding genes) or acquired [3] (often
    resulting from autoimmune attack on an ion channel).
    There are many distinct dysfunctions known to be caused by ion channel mutations.
    The genes for the construction of ion channels are highly conserved amongst mammals
    and one condition, hyperkalemic periodic paralysis, was first identified in the
    descendants of Impressive, a registered Quarter Horse.
    The channelopathies of human skeletal muscle include hyper- and hypokalemic (high
    and low potassium blood concentrations) periodic paralysis, myotonia
    congenita and paramyotonia congenita.
    Channelopathies affecting synaptic function are a type of synaptopathy.

    Contents

     1Types
     2References
     3Bibliography
     4External links

    Types[edit]
    The types in the following table are commonly accepted. [by whom?][citation needed] Channelopathies
    currently under research, like Kir4.1 potassium channel in multiple sclerosis, are not
    included.

    Condition Channel type

    Alternating hemiplegia of childhood Na⁺/K⁺-ATPase

    Bartter syndrome various by type

    Brugada syndrome various, by type

    Catecholaminergic polymorphic ventricular


    Ryanodine receptor
    tachycardia (CPVT)

    Congenital hyperinsulinism Inward-rectifier potassium ion channel

    Cystic fibrosis Chloride channel

    Dravet Syndrome Voltage-gated sodium channel

    Episodic Ataxia Voltage-gated potassium channel

    Erythromelalgia Voltage-gated sodium channel


    Generalized epilepsy with febrile seizures plus Voltage-gated sodium channel

    Familial hemiplegic migraine various

    Associated with one particular disabling form


    Voltage-gated sodium channel
    of Fibromyalgia[4]

    Hyperkalemic periodic paralysis Voltage-gated sodium channel

    Voltage-gated sodium channel


    Hypokalemic periodic paralysis
    or
    voltage-dependent calcium channel (calciumopathy)

    Lambert-Eaton myasthenic syndrome Voltage-gated calcium channel


    Long QT syndrome
    various, by type
    main type Romano-Ward syndrome

    Malignant hyperthermia Ligand-gated calcium channel


    Mucolipidosis type IV Non-selective cation channel
    Myotonia congenita Voltage-dependent chloride channel
    Neuromyelitis optica Aquaporin-4 water channel
    Neuromyotonia Voltage-gated potassium channel
    Nonsyndromic deafness various
    Paramyotonia congenita
    Voltage-gated sodium channel
    (a periodic paralysis)
    Polymicrogyria (Brain Malformation) Voltage-gated sodium channel, SCN3A [5]
    Retinitis pigmentosa
    Ligand-gated non-specific ion channels
    (some forms)
    Short QT syndrome various potassium channels suspected
    Timothy syndrome Voltage-dependent calcium channel
    Voltage-gated potassium channel of the
    Tinnitus
    KCNQ family
    Seizure Voltage-dependent potassium channel[6][7]

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