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- W4214505087 abstract "Epilepsy is a heterogeneous group of disorders characterized by recurrent and generally unprovoked seizures. Genetic mutations may play an important role in the etiology of epilepsy. Over the past few years, genetic mutations in various genes have been identified in patients with epilepsy. One of the more common mutations responsible for seizures involves the KCNH2 gene. The KCNH2 gene encodes the Kv11.1 protein, which involves the pore-forming subunit of a rapidly activating-delayed rectifier potassium channel. This channel plays an essential role in phases 2 and 3 of the cardiac action potential involving cardiac repolarization as well as being expressed in various parts of the central nervous system where it regulates neuronal function. As such, patients presenting with this gene mutation may be at risk not only for seizures, but also abnormalities in cardiac repolarization leading to lethal arrhythmias. We present an 11-year-old girl who required general anesthesia for magnetic resonance imaging as part of her evaluation for non-convulsive status epilepticus. An epilepsy gene panel evaluated revealed a KCNH2 gene mutation. End-organ involvement of KCNH2 gene mutations is presented, previous reports of anesthetic care for these patients are reviewed, and options for anesthetic care are discussed." @default.
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- W4214505087 date "2022-01-01" @default.
- W4214505087 modified "2023-09-30" @default.
- W4214505087 title "Anesthetic Care of a Child Harboring the KCNH2 Gene." @default.
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- W4214505087 doi "https://doi.org/10.14740/jmc3870" @default.
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