Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1

著录项

• 来源
  《Seizure: the journal of the British Epilepsy Association》 |2020年第1期|共2页
• 作者

  Kara Bulent; Sarikaya Cansu Egilmez; Bayrak Yunus Emre; Gunes Ayfer Sakarya; Gungor Mesut; Yesil Gozde;

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• 作者单位

  Kocaeli Univ Div Child Neurol Dept Pediat Fac Med Umuttepe Kampusu TR-41380 Kocaeli Turkey;

  Kocaeli Univ Dept Neurol Fac Med Kocaeli Turkey;

  Kocaeli Univ Dept Pediat Fac Med Kocaeli Turkey;

  Kocaeli Univ Div Child Neurol Dept Pediat Fac Med Umuttepe Kampusu TR-41380 Kocaeli Turkey;

  Kocaeli Univ Div Child Neurol Dept Pediat Fac Med Umuttepe Kampusu TR-41380 Kocaeli Turkey;

  Istanbul Bezm I Alem Univ Dept Med Genet Istanbul Turkey;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 神经病学与精神病学;
• 关键词

  Neuroserpinosis; SERPINI1; Neurodejenerative disorders; Progressive myoclonus epilepsy;

  机译：神经缠结;serpini1;神经引发障碍;进行肌糖型癫痫;