| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Epilepsy & Behavior Reports, Vol 15, Iss , Pp 100405- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2589-9864 |
| DOI: |
10.1016/j.ebr.2020.100405 |
| Popis: |
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-progressive generalized epilepsy with tremor. The efficacy of valproic acid for seizure control and the partial efficacy of deep brain stimulation with propranolol for myoclonic tremor is detailed. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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