A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation
Tatsuo Mori, Masamune Sakamoto, Takahiro Tayama, Aya Goji, Yoshihiro Toda, Atsushi Fujita, Takeshi Mizuguchi, Maki Urushihara, Naomichi Matsumoto
Topics & Concepts
EpilepsyChromosomal translocationMedicineValproic AcidIctalPediatricsInternal medicineBiologyGeneticsPsychiatryGeneGlycogen Storage Diseases and MyoclonusEpilepsy research and treatmentGenomic variations and chromosomal abnormalities