KCNA2 Epilepsy: Difference between revisions
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== Introduction == | == Introduction == | ||
KCNA2 is a potassium (K+) channel located in the | KCNA2 is a voltage-gated potassium (K+) channel. Many of these channels are located in the central nervous system. Mutations occurring in K+ channel-coding genes cause different neurological diseases. '''KCNA2 epilepsy''' is caused by a variation in the '''KCNA2 gene''' (on chromosome 1p13) leading to a malfunction in the K+ channel.<ref name=":0">KCNA2 Epilepsy Organisation. What is KCNA2 Epilepsy. Available from: https://www.kcna2epilepsy.org/kcna2-epilepsy/what-is-kcna2-epilepsy/ (accessed 26 June 2023).</ref><ref>McGinn RJ, Von Stein EL, Stromberg JE, Li Y. Precision medicine in epilepsy. [https://www.sciencedirect.com/science/article/abs/pii/S1877117322000473 Progress in Molecular Biology and Translational Science]. 2022 Jan 1;190(1):147-88.</ref><ref>Syrbe S, Hedrich U, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M. [https://www.researchgate.net/publication/273383158_De_novo_loss-_or_gain-of-function_mutations_in_KCNA2_cause_epileptic_encephalopathy De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy]. Nature genetics. 2015 Apr;47(4):393-9.</ref> | ||
This malfunction can be seen as:<ref name=":0" /> | This malfunction can be seen as:<ref name=":0" /> | ||
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In all three malfunctions, epilepsy may be observed. | In all three malfunctions, epilepsy may be observed. | ||
KCNA2 epilepsy can also be part of encephalopathy.<ref>Masnada S, Hedrich UB, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K. [https://www.researchgate.net/publication/320372444_Clinical_spectrum_and_genotype-phenotype_associations_of_KCNA2-related_encephalopathies Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies.] Brain. 2017 Sep 1;140(9):2337-54.</ref> Encephalopathy itself can be defined as a "... dysfunction of the level or contents of consciousness due to brain dysfunction and can result from global brain insults or focal lesions." <ref>Erkkinen MG, Berkowitz AL. [https://www.amjmed.com/article/S0002-9343(19)30571-6/fulltext A clinical approach to diagnosing encephalopathy]. The American Journal of Medicine. 2019 Oct 1;132(10):1142-7.</ref> | |||
== Clinically Relevant Anatomy<br> == | == Clinically Relevant Anatomy<br> == | ||
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Epileptic encephalopathy<ref>Syrbe S, Hedrich U, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380508/pdf/emss-62156.pdf De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy]. Nature genetics. 2015 Apr;47(4):393-9.</ref> | Epileptic encephalopathy<ref>Syrbe S, Hedrich U, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380508/pdf/emss-62156.pdf De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy]. Nature genetics. 2015 Apr;47(4):393-9.</ref> | ||
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== Clinical Presentation == | == Clinical Presentation == | ||
Revision as of 21:37, 28 June 2023
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Introduction[edit | edit source]
KCNA2 is a voltage-gated potassium (K+) channel. Many of these channels are located in the central nervous system. Mutations occurring in K+ channel-coding genes cause different neurological diseases. KCNA2 epilepsy is caused by a variation in the KCNA2 gene (on chromosome 1p13) leading to a malfunction in the K+ channel.[1][2][3]
This malfunction can be seen as:[1]
- A gain of function - where the channel does not close properly. This leads to an increased amount of K+ in the brain.
- A loss of function - where the channel does not open properly. This leads to a low amount of K+ in the brain.
- A mix of functions - Where the K+ channel does both.
In all three malfunctions, epilepsy may be observed.
KCNA2 epilepsy can also be part of encephalopathy.[4] Encephalopathy itself can be defined as a "... dysfunction of the level or contents of consciousness due to brain dysfunction and can result from global brain insults or focal lesions." [5]
Clinically Relevant Anatomy
[edit | edit source]
add text here relating to clinically relevant anatomy of the condition
Mechanism of Injury / Pathological Process
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Epileptic encephalopathy[6]
Clinical Presentation[edit | edit source]
add text here relating to the clinical presentation of the condition
Diagnostic Procedures[edit | edit source]
add text here relating to diagnostic tests for the condition
Outcome Measures[edit | edit source]
add links to outcome measures here (see Outcome Measures Database)
Management / Interventions
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add text here relating to management approaches to the condition
Differential Diagnosis
[edit | edit source]
add text here relating to the differential diagnosis of this condition
Resources
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add appropriate resources here
References[edit | edit source]
- ↑ 1.0 1.1 KCNA2 Epilepsy Organisation. What is KCNA2 Epilepsy. Available from: https://www.kcna2epilepsy.org/kcna2-epilepsy/what-is-kcna2-epilepsy/ (accessed 26 June 2023).
- ↑ McGinn RJ, Von Stein EL, Stromberg JE, Li Y. Precision medicine in epilepsy. Progress in Molecular Biology and Translational Science. 2022 Jan 1;190(1):147-88.
- ↑ Syrbe S, Hedrich U, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M. De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature genetics. 2015 Apr;47(4):393-9.
- ↑ Masnada S, Hedrich UB, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K. Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies. Brain. 2017 Sep 1;140(9):2337-54.
- ↑ Erkkinen MG, Berkowitz AL. A clinical approach to diagnosing encephalopathy. The American Journal of Medicine. 2019 Oct 1;132(10):1142-7.
- ↑ Syrbe S, Hedrich U, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M. De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature genetics. 2015 Apr;47(4):393-9.
