1. A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor
- Author
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Kenichi Nagamatsu, Noriko Miyake, Kazutaka Jin, Naomichi Matsumoto, Mitsugu Uematsu, Naomi Hino-Fukuyo, Tadashi Ando, Hiroyuki Yokoyama, Mitsutoshi Munakata, Futoshi Sekiguchi, Kazuhiro Haginoya, and Shigeo Kure
- Subjects
Neurophysiology and neuropsychology ,Pediatrics ,medicine.medical_specialty ,Deep brain stimulation ,medicine.medical_treatment ,DBS ,Propranolol ,Myoclonic tremor ,Article ,Behavioral Neuroscience ,Intellectual disability ,medicine ,Seizure control ,Generalized epilepsy ,RC346-429 ,Early onset ,Valproic Acid ,business.industry ,QP351-495 ,medicine.disease ,Phenotype ,nervous system diseases ,Neurology ,NUS1 ,Neurology (clinical) ,Neurology. Diseases of the nervous system ,business ,medicine.drug ,6q22.1 deletion - Abstract
Highlights • Generalized epilepsy with tremor phenotype ss a clinical marker of 6q22.1 microdeletion. • Deep brain stimulation may be applicable choince for intractable myoclonic tremor. • Over activation of basal ganglia may be related to this patient's symptoms., 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.
- Published
- 2021