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A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation.

Brain & development - 1 Aug 2023

Mori Tatsuo, Sakamoto Masamune, Tayama Takahiro, Goji Aya, Toda Yoshihiro, Fujita Atsushi, Mizuguchi Takeshi, Urushihara Maki, Matsumoto Naomichi

Abstract excerpt

INTRODUCTION: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient. CASE PRESENTATION: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of...

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Identifiers

PMID: 36966012
DOI: 10.1016/j.braindev.2023.03.001

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