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Article

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.

Internal medicine (Tokyo, Japan) - 15 Mar 2020

Kurihara Masanori, Ishiura Hiroyuki, Bannai Taro, Mitsui Jun, Yoshimura Jun, Morishita Shinichi, Hayashi Toshihiro, Shimizu Jun, Toda Tatsushi, Tsuji Shoji

Abstract excerpt

Heterozygous mutations in KIF1A have been reported to cause syndromic intellectual disability or pure spastic paraplegia. However, their genotype-phenotype correlations have not been fully elucidated. We herein report a man with autism and hyperactivity along with sensory disturbance and spastic paraplegia, carrying a novel de novo mutation in KIF1A [c.37C>T (p.R13C)]. Autism and hyperactivity have only...

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Identifiers

PMID: 31813911
DOI: 10.2169/internalmedicine.3661-19
PMCID: PMC7118386

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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.

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