Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

Abstract Background We encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis. Case presentation Whole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 + 1C > A] in both individuals. This...

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Bibliographic Details
Main Authors: Kouhei Den, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi, Fumiaki Tanaka, Hirokazu Oguni, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Satomi Mitsuhashi, Naomichi Matsumoto
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Neurology
Subjects:
Whole-exome sequencing
NUS1
Epilepsy
Online Access:http://link.springer.com/article/10.1186/s12883-019-1489-x

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http://link.springer.com/article/10.1186/s12883-019-1489-x

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