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<p>This article addresses monogenic causes of epilepsy syndromes that typically begin before the second birthday. It is based on the 2022 publication of the International League Against Epilepsy (ILAE) describing the classification and definition of epilepsy syndromes with onset in neonates and infants. The article focuses on developmental and epileptic encephalopathies (DEE), self-limited epilepsies of early childhood, as well as a&#xa0;selection of specific epilepsy syndromes. Recommendations for genetic diagnostics in early onset epilepsy and epilepsy syndromes can be found in the recently published “Update on the recommendations of the Expert Panel on Epilepsy and Genetics of the German Society for Epileptology” (ZEPI-D-25-00043).</p>

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Genetik frühkindlicher Epilepsien und epileptischer Syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月18日

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  • Ilona Krey,
  • Matias Wagner

摘要

This article addresses monogenic causes of epilepsy syndromes that typically begin before the second birthday. It is based on the 2022 publication of the International League Against Epilepsy (ILAE) describing the classification and definition of epilepsy syndromes with onset in neonates and infants. The article focuses on developmental and epileptic encephalopathies (DEE), self-limited epilepsies of early childhood, as well as a selection of specific epilepsy syndromes. Recommendations for genetic diagnostics in early onset epilepsy and epilepsy syndromes can be found in the recently published “Update on the recommendations of the Expert Panel on Epilepsy and Genetics of the German Society for Epileptology” (ZEPI-D-25-00043).