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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
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
Descripción
Sumario: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.

Ejemplares similares