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Article

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

Cerebellum (London, England) - 1 Apr 2018

Kurihara Masanori, Ishiura Hiroyuki, Sasaki Takuya, Otsuka Juuri, Hayashi Toshihiro, Terao Yasuo, Matsukawa Takashi, Mitsui Jun, Kaneko Juntaro, Nishiyama Kazutoshi, Doi Koichiro, Yoshimura Jun, Morishita Shinichi, Shimizu Jun, Tsuji Shoji

Abstract excerpt

Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. We report the case of a 30-year-old Japanese man presenting with intellectual disability, early onset cerebellar ataxia, myoclonus, and dystonia without a family history. MRI showed cerebellar atrophy, and electroencephalograms showed paroxysmal sharp waves during hyperventilation and...

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Source

Identifiers

PMID: 28895081
DOI: 10.1007/s12311-017-0883-4

Genes

KCND3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.PMID 28895081Read ↗

Mutations in KCND3 cause spinocerebellar ataxia type 22.Semantic proximity Read ↗

Spinocerebellar ataxia type 19: a series of patients from Latin America. Phenotypic spectrum from early-onset to late-onset slowly progressive ataxiaSemantic proximity Read ↗

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsySemantic proximity Read ↗

The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.Semantic proximity Read ↗

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Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.Semantic proximity Read ↗

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