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- W2909597573 abstract "We describe the novel phenotypic features of an adult male patient carrying a p.Arg297Gln (c.890G > A) mutation of the KCNA2 gene encoding the voltage-gated potassium channel KV1.2. This mutation has been previously reported in patients presenting with epileptic encephalopathy (MIM # 616366) and early-onset polymorphic seizures [1–3] but, unlike the other cases, the clinical aspects of our patient included prominent and worsening action myoclonus consistent with progressive myoclonus epilepsy (PME)." @default.
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- W2909597573 date "2019-02-01" @default.
- W2909597573 modified "2023-10-01" @default.
- W2909597573 title "Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation" @default.
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- W2909597573 doi "https://doi.org/10.1016/j.seizure.2019.01.005" @default.
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