A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor

A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor

We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years. Our report presents the genetic basis for a phenotype involving a non-progr...

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Bibliographic Details
Main Authors: Kazuhiro Haginoya, Futoshi Sekiguchi, Mitsutoshi Munakata, Hiroyuki Yokoyama, Naomi Hino-Fukuyo, Mitsugu Uematsu, Kazutaka Jin, Kenichi Nagamatsu, Tadashi Ando, Noriko Miyake, Naomichi Matsumoto, Shigeo Kure
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:Epilepsy & Behavior Reports
Subjects:
6q22.1 deletion
NUS1
Myoclonic tremor
Generalized epilepsy
Deep brain stimulation
DBS
Online Access:http://www.sciencedirect.com/science/article/pii/S2589986420300538

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http://www.sciencedirect.com/science/article/pii/S2589986420300538

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