Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.

doi:10.1016/j.braindev.2020.06.011

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Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.

Brain & development - 1 Oct 2020

Togashi Noriko, Fujita Atsushi, Shibuya Moriei, Uneoka Saki, Miyabayashi Takuya, Sato Ryo, Okubo Yukimune, Endo Wakaba, Inui Takehiko, Jin Kazutaka, Matsumoto Naomichi, Haginoya Kazuhiro

Abstract excerpt

BACKGROUND: Generalized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, non-progressive tremor and generalized epilepsy phenotypes have also been reported in patients with DHDDS variants. CASE PRESENTATION: We report on a long term...

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Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.

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