The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era

被引：3

作者：

Kanmaz, Seda ^{[1
]}

Yilmaz, Sanem ^{[1
]}

Olculu, Cemile Buesra ^{[1
]}

Toprak, Dilara Ece ^{[1
]}

Ince, Tugce ^{[1
]}

Yilmaz, Ozlem ^{[1
]}

Atas, Yavuz ^{[1
]}

Sen, Gursel ^{[1
]}

Simsek, Erdem ^{[1
]}

Serin, Hepsen Mine ^{[1
]}

Durmusalioglu, Enise Avci ^{[2
]}

Isik, Esra ^{[2
]}

Atik, Tahir ^{[2
]}

Aktan, Gul ^{[1
]}

Cogulu, Ozgur ^{[2
]}

Gokben, Sarenur ^{[1
]}

Ozkinay, Ferda ^{[2
]}

Tekgul, Hasan ^{[1
]}

机构：

[1] Ege Univ, Med Fac, Dept Pediat, Div Child Neurol, Izmir, Turkiye

[2] Ege Univ, Med Fac, Dept Pediat, Div Pediat Genet, Izmir, Turkiye

来源：

PEDIATRIC NEUROLOGY | 2024年 / 157卷

关键词：

Genomic era; Next-generation sequencing; Infantile epileptic spasms syndrome; West syndrome; Whole exome sequencing; WEST SYNDROME; CHILDREN; EPILEPSIES; CLASSIFICATION; DIAGNOSIS; ETIOLOGY;

D O I：

10.1016/j.pediatrneurol.2024.05.018

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era. Methods: The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing). The diagnostic utility of genetic testing was evaluated to compare the early-NGS period (2005 to 2013, n = 183) and the NGS era (2014 to 2021, n = 131). Results: An ESD was established in 221 of 314 (70.4%) infants with IESS: structural, 40.8%; genetic, 17.2%; metabolic, 8.3%; immune-infectious, 4.1%. The diagnostic yield of genetic testing increased from 8.9% to 41.7% in the cohort during the four follow-up periods. The rate of unknown etiology decreased from 34.9% to 22.1% during the follow-up periods. The genetic ESD was established as 27.4% with genetic testing in the NGS era. The genetic testing in the NGS era increased dramatically in subgroups with unknown and structural etiologies. The diagnostic yields of the epilepsy panels increased from 7.6% to 19.2%. However, the diagnostic yield of whole exome sequencing remained at similar levels during the early-NGS period at 54.5% and in the NGS era at 59%. Conclusions: The more genetic ESD (27.4%) was defined for IESS in the NGS era with the implication of precision therapy (37.7%). (c) 2024 Published by Elsevier Inc.

引用

页码：100 / 107

页数：8

共 31 条

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