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2019 (v1)PublicationUploaded on: April 14, 2023
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2019 (v1)Publication
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2019 (v1)Publication
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2019 (v1)Publication
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2018 (v1)Publication
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2018 (v1)Publication
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2017 (v1)Publication
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2020 (v1)Publication
Episodic ataxia type 2 (EA2) is an autosomal dominant neurological disorder characterized by paroxysmal attacks of ataxia, vertigo, and nausea that usually last hours to days. It is caused by loss-of-function mutations in CACNA1A, the gene encoding the pore-forming α1 subunit of P/Q-type voltage-gated Ca2+ channels. Although pharmacological...
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2021 (v1)Publication
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2020 (v1)Publication
Neurodevelopmental disorders (NDDs) are a group of disorders in which the development of the central nervous system (CNS) is disturbed, resulting in different neurological and neuropsychiatric features, such as impaired motor function, learning, language or non-verbal communication. Frequent comorbidities include epilepsy and movement...
Uploaded on: April 14, 2023