Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Epilepsy Behav. 2024 Feb;151:109621. doi: 10.1016/j.yebeh.2024.109621. Epub 2024 Jan 17.
Inherited metabolic epilepsies (IMEs) represent inherited metabolic disorders predominately presenting with seizures. While most IMEs are currently managed with symptomatic and supportive therapies, some are amenable to disorder-specific targeted treatments. In most cases, these treatments are effective only if given in a narrow time window early in the lives of affected patients. Hence, prompt recognition of treatable inherited metabolic epilepsies at an early age and as soon as symptoms appear has paramount importance. Herein, we provide an overview of inherited metabolic epilepsies, which presently have established targeted treatments showing clinical efficacy in reducing seizure burden and improving neurodevelopmental outcomes. These therapeutic modalities range from specific diets, vitamins, and supplementation of organic compounds to synthetic pharmacological agents and novel genetic-based therapies that alter the biochemical pathways of these disorders at the cellular or molecular level, steering them to their normal function.
遗传性代谢性癫痫(IMEs)是一类主要以癫痫发作为表现的遗传性代谢性疾病。虽然目前大多数 IME 采用对症和支持治疗,但部分疾病可采用针对特定疾病的靶向治疗。在大多数情况下,如果在患病患者的生命早期且症状出现后不久给予这些治疗,这些治疗才有效。因此,尽早在发病年龄并在出现症状时迅速识别可治疗的遗传性代谢性癫痫具有至关重要的意义。本文概述了目前具有明确靶向治疗的遗传性代谢性癫痫,这些治疗方法在减轻癫痫发作负担和改善神经发育结局方面具有临床疗效。这些治疗方法包括特定的饮食、维生素和有机化合物的补充,以及合成的药理学药物和新型基于基因的治疗方法,它们可在细胞或分子水平上改变这些疾病的生化途径,使它们恢复正常功能。