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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...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7786037/ https://www.ncbi.nlm.nih.gov/pubmed/33437959 http://dx.doi.org/10.1016/j.ebr.2020.100405 |
| _version_ | 1783632549947375616 |
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| author | Haginoya, Kazuhiro Sekiguchi, Futoshi Munakata, Mitsutoshi Yokoyama, Hiroyuki Hino-Fukuyo, Naomi Uematsu, Mitsugu Jin, Kazutaka Nagamatsu, Kenichi Ando, Tadashi Miyake, Noriko Matsumoto, Naomichi Kure, Shigeo |
| author_facet | Haginoya, Kazuhiro Sekiguchi, Futoshi Munakata, Mitsutoshi Yokoyama, Hiroyuki Hino-Fukuyo, Naomi Uematsu, Mitsugu Jin, Kazutaka Nagamatsu, Kenichi Ando, Tadashi Miyake, Noriko Matsumoto, Naomichi Kure, Shigeo |
| author_sort | Haginoya, Kazuhiro |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-7786037 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-77860372021-01-11 A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor Haginoya, Kazuhiro Sekiguchi, Futoshi Munakata, Mitsutoshi Yokoyama, Hiroyuki Hino-Fukuyo, Naomi Uematsu, Mitsugu Jin, Kazutaka Nagamatsu, Kenichi Ando, Tadashi Miyake, Noriko Matsumoto, Naomichi Kure, Shigeo Epilepsy Behav Rep Article 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. Elsevier 2020-11-16 /pmc/articles/PMC7786037/ /pubmed/33437959 http://dx.doi.org/10.1016/j.ebr.2020.100405 Text en © 2020 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Article Haginoya, Kazuhiro Sekiguchi, Futoshi Munakata, Mitsutoshi Yokoyama, Hiroyuki Hino-Fukuyo, Naomi Uematsu, Mitsugu Jin, Kazutaka Nagamatsu, Kenichi Ando, Tadashi Miyake, Noriko Matsumoto, Naomichi Kure, Shigeo A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor |
| title | A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor |
| title_full | A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor |
| title_fullStr | A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor |
| title_full_unstemmed | A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor |
| title_short | A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor |
| title_sort | patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7786037/ https://www.ncbi.nlm.nih.gov/pubmed/33437959 http://dx.doi.org/10.1016/j.ebr.2020.100405 |
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