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Article

Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.

Brain & development - 1 Jan 2017

Okazaki Tetsuya, Saito Yoshiaki, Ueda Riyo, Awashima Takeya, Nishimura Yoko, Yuasa Isao, Shinohara Yuki, Adachi Kaori, Sasaki Masayuki, Nanba Eiji, Maegaki Yoshihiro

Abstract excerpt

Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by short stature and macrocephaly. Clinical symptoms and radiological and histopathological features of HCH are similar, but milder than those seen in achondroplasia. Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy. We report a 3-year-old girl who developed...

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Source

Identifiers

PMID: 27485793
DOI: 10.1016/j.braindev.2016.07.004

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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