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Channelopathy
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Diseases of ion channels
Calcium channel
Voltage-gated
CACNA1A
Familial hemiplegic migraine 1
Episodic ataxia 2
Spinocerebellar ataxia type-6
CACNA1C
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
CACNA1F
Ocular albinism 2
CSNB2A
CACNA1S
Hypokalemic periodic paralysis 1
Thyrotoxic periodic paralysis 1
CACNB2
Brugada syndrome 4
Ligand gated
RYR1
Malignant hyperthermia
Central core disease
RYR2
CPVT1
ARVD2
Sodium channel
Voltage-gated
SCN1A
Familial hemiplegic migraine 3
GEFS+ 2
Febrile seizure 3A
SCN1B
Brugada syndrome 6
GEFS+ 1
SCN4A
Hypokalemic periodic paralysis 2
Hyperkalemic periodic paralysis
Paramyotonia congenita
Potassium-aggravated myotonia
SCN4B
Long QT syndrome 10
SCN5A
Brugada syndrome 1
Long QT syndrome 3
SCN9A
Erythromelalgia
Febrile seizure 3B
Paroxysmal extreme pain disorder
Congenital insensitivity to pain
Constitutively active
SCNN1B
/
SCNN1G
Liddle's syndrome
SCNN1A
/
SCNN1B
/
SCNN1G
Pseudohypoaldosteronism 1AR
Potassium channel
Voltage-gated
KCNA1
Episodic ataxia 1
KCNA5
Familial atrial fibrillation 7
KCNC3
Spinocerebellar ataxia type-13
KCNE1
Jervell and Lange-Nielsen syndrome
Long QT syndrome 5
KCNE2
Long QT syndrome 6
KCNE3
Brugada syndrome 5
KCNH2
Short QT syndrome
KCNQ1
Jervell and Lange-Nielsen syndrome
Romano–Ward syndrome
Short QT syndrome
Long QT syndrome 1
Familial atrial fibrillation 3
KCNQ2
BFNS1
Inward-rectifier
KCNJ1
Bartter syndrome 2
KCNJ2
Andersen–Tawil syndrome
Long QT syndrome 7
Short QT syndrome
KCNJ11
TNDM3
KCNJ18
Thyrotoxic periodic paralysis 2
Chloride channel
CFTR
Cystic fibrosis
Congenital absence of the vas deferens
CLCN1
Thomsen disease
Myotonia congenita
CLCN5
Dent's disease
CLCN7
Osteopetrosis A2, B4
BEST1
Vitelliform macular dystrophy
CLCNKB
Bartter syndrome 3
TRP channel
TRPC6
FSGS2
TRPML1
Mucolipidosis type IV
Connexin
GJA1
Oculodentodigital dysplasia
Hallermann–Streiff syndrome
Hypoplastic left heart syndrome
GJB1
Charcot–Marie–Tooth disease X1
GJB2
Keratitis–ichthyosis–deafness syndrome
Ichthyosis hystrix
Bart–Pumphrey syndrome
Vohwinkel syndrome
)
GJB3
/
GJB4
Erythrokeratodermia variabilis
Progressive symmetric erythrokeratodermia
GJB6
Clouston's hidrotic ectodermal dysplasia
Porin
AQP2
Nephrogenic diabetes insipidus 2
See also:
ion channels
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