Sodium Channelopathies: Difference between revisions
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|'''Gain of function''': SCN9A neuropathic pain syndromes: [[erythromelalgia]],[[Small Fibre Neuropathy|Small fibre neuropathy]], paroxysmal extreme pain disorder | |'''Gain of function''': SCN9A neuropathic pain syndromes: [[erythromelalgia]],[[Small Fibre Neuropathy|Small fibre neuropathy]], paroxysmal extreme pain disorder | ||
'''Loss of function''': Congenital Insensitivity to Pain (CIP) | '''Loss of function''': Congenital Insensitivity to Pain (CIP) a.k.a hereditary sensory and autonomic neuropathy type 2D (HSAN2D) | ||
|- | |- | ||
!Na<sub>v</sub>1.8 | !Na<sub>v</sub>1.8 | ||
|''SCN10A'' | |''SCN10A'' | ||
|Dorsal root ganglia | |Dorsal root ganglia | ||
|[[Small Fibre Neuropathy|Small fibre neuropathy]], | |[[Small Fibre Neuropathy|Small fibre neuropathy]], autosomal recessive neuromuscular disease and epileptic encephalopathy, autosomal dominant familial episodic pain syndrome type 2 (FEPS2), Brugada syndrome , and congenital abnormalities of the kidney and urinary tract. | ||
|- | |- | ||
!Na<sub>v</sub>1.9 | !Na<sub>v</sub>1.9 | ||
|''SCN11A'' | |''SCN11A'' | ||
|Dorsal root ganglia | |Dorsal root ganglia | ||
|[[Small Fibre Neuropathy|Small fibre neuropathy]] | |[[Small Fibre Neuropathy|Small fibre neuropathy]], autosomal dominant hereditary sensory and autonomic neuropathy type 7 (HSAN7), familial episodic pain syndrome type 3 (FEPS3) | ||
|- | |- | ||
!Na<sub>x</sub> | !Na<sub>x</sub> | ||
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|none known | |none known | ||
|} | |} | ||
== See Also == | == See Also == |
Revision as of 18:20, 13 March 2023
Voltage gated sodium channels are transmembrane polypeptides with four domains. A pore is made with all four domains through which sodium can enter the cell. There is also an ancillary beta unit for anchoring and kinetics. They are responsible for signalling the nerve fibres for generation of action potentials (See Basic Neurophysiology).
Classification
There are nine known members of sodium channels labelled Nav1.1 through Nav1.9. The associated genes are named SCN1A through SCN11A (the SCN6/7A gene is part of the Nax sub-family and has uncertain function)
Protein name | Gene | Expression profile | Associated channelopathies |
---|---|---|---|
Nav1.1 | SCN1A | Central neurons, [peripheral neurons] and cardiac myocytes | febrile epilepsy, GEFS+, Dravet syndrome (also known as severe myclonic epilepsy of infancy or SMEI), borderline SMEI (SMEB), West syndrome (also known as infantile spasms), Doose syndrome (also known as myoclonic astatic epilepsy), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), Panayiotopoulos syndrome, familial hemiplegic migraine (FHM), familial autism, Rasmussens's encephalitis and Lennox-Gastaut syndrome |
Nav1.2 | SCN2A | Central neurons, peripheral neurons | inherited febrile seizures, epilepsy, and autism spectrum disorder |
Nav1.3 | SCN3A | Central neurons, peripheral neurons and cardiac myocytes | epilepsy, pain, brain malformations |
Nav1.4 | SCN4A | Skeletal muscle | Certain non-dystrophic myotonias: Sodium channel myotonia, Paramyotonia congenita, Hyperkalaemic periodic paralysis |
Nav1.5 | SCN5A | Cardiac myocytes, uninnervated skeletal muscle, central neurons, gastrointestinal smooth muscle cells and Interstitial cells of Cajal | Cardiac: Long QT syndrome Type 3, Brugada syndrome, progressive cardiac conduction disease, familial atrial fibrillation and idiopathic ventricular fibrillation;
Gastrointestinal: Irritable bowel syndrome; |
Nav1.6 | SCN8A | Central neurons, dorsal root ganglia, peripheral neurons, heart, glia cells | Epilepsy, ataxia, dystonia, tremor |
Nav1.7 | SCN9A | Dorsal root ganglia, sympathetic neurons, Schwann cells, and neuroendocrine cells | Gain of function: SCN9A neuropathic pain syndromes: erythromelalgia,Small fibre neuropathy, paroxysmal extreme pain disorder
Loss of function: Congenital Insensitivity to Pain (CIP) a.k.a hereditary sensory and autonomic neuropathy type 2D (HSAN2D) |
Nav1.8 | SCN10A | Dorsal root ganglia | Small fibre neuropathy, autosomal recessive neuromuscular disease and epileptic encephalopathy, autosomal dominant familial episodic pain syndrome type 2 (FEPS2), Brugada syndrome , and congenital abnormalities of the kidney and urinary tract. |
Nav1.9 | SCN11A | Dorsal root ganglia | Small fibre neuropathy, autosomal dominant hereditary sensory and autonomic neuropathy type 7 (HSAN7), familial episodic pain syndrome type 3 (FEPS3) |
Nax | SCN7A | heart, uterus, skeletal muscle, astrocytes, dorsal root ganglion cells | none known |
See Also
GeneReviews - SCN9A Pain Conditions
References
- ↑ "Sodium channel". Wikipedia (in English). 2022-12-02.
Literature Review
- Reviews from the last 7 years: review articles, free review articles, systematic reviews, meta-analyses, NCBI Bookshelf
- Articles from all years: PubMed search, Google Scholar search.
- TRIP Database: clinical publications about evidence-based medicine.
- Other Wikis: Radiopaedia, Wikipedia Search, Wikipedia I Feel Lucky, Orthobullets,