Bartolini Emanuele
USL Centro Toscana, Neurology Unit, Nuovo Ospedale Santo Stefano, 59100 Prato, Italy.
Neurol Int. 2021 Nov 3;13(4):555-568. doi: 10.3390/neurolint13040055.
Epileptic encephalopathies often have a genetic etiology. The epileptic activity itself exerts a direct detrimental effect on neurodevelopment, which may add to the cognitive impairment induced by the underlying mutation ("developmental and epileptic encephalopathy"). The focus of this review is on inherited syndromes. The phenotypes of genetic disorders affecting ion channels, metabolic signalling, membrane trafficking and exocytosis, cell adhesion, cell growth and proliferation are discussed. Red flags suggesting family of genes or even specific genes are highlighted. The knowledge of the phenotypical spectrum can indeed prompt the clinician to suspect specific etiologies, expediting the diagnosis.
癫痫性脑病通常有遗传病因。癫痫活动本身对神经发育有直接的有害影响,这可能会加重由潜在突变引起的认知障碍(“发育性和癫痫性脑病”)。本综述的重点是遗传性综合征。讨论了影响离子通道、代谢信号传导、膜运输和胞吐作用、细胞黏附、细胞生长和增殖的遗传疾病的表型。强调了提示基因家族甚至特定基因的危险信号。表型谱的知识确实可以促使临床医生怀疑特定病因,加快诊断。