Episodic Ataxia, Type 9 (EA9)

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OMIM® 57 618924 OMIM Phenotypic Series 57 PS160120 MeSH 44 D001259

MedGen 41 C5394520 CN230100 SNOMED-CT via HPO 68 103290003 230456007 249497008 263681008 300359004 33595009 421455009 422400008 54200006 563001 81308009 more

OMIM® : ⁵⁷ Episodic ataxia type 9 (EA9) is a neurologic disorder characterized by onset of ataxic episodes in the first years of life. Features may include difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The ataxic episodes vary in frequency and duration; most tend to occur every few weeks or months and last minutes to hours. Prior to the EA, most patients have neonatal- or infantile-onset tonic or generalized tonic-clonic (GTC) seizures that may be severe and refractory to medication, but remit later in infancy or early childhood, either spontaneously or concurrently with medication. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. However, others show normal psychomotor development. Treatment of the ataxic episodes with acetazolamide is effective in about 50% of patients (summary by Schwarz et al., 2019). For a phenotypic description and discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). (618924) (Updated 05-Mar-2021)

MalaCards based summary : Episodic Ataxia, Type 9, also known as episodic ataxia type 9, is related to ataxia and polyneuropathy, adult-onset and learning disability. An important gene associated with Episodic Ataxia, Type 9 is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2). Related phenotypes are nystagmus and vomiting

UniProtKB/Swiss-Prot : ⁷³ Episodic ataxia 9: An autosomal dominant neurologic disorder characterized by episodic ataxia manifesting in the first years of life, early-onset seizures, difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The duration of ataxic episodes is heterogeneous. Most patients show episodes lasting minutes to maximum several hours, but periods lasting days up to weeks have been reported. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development.

Clinical features from OMIM®:

618924 (Updated 05-Mar-2021)

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