Scholarlink

<p>Fibroblast growth factor-12 (<i>FGF12</i>) variants have been associated with developmental and epileptic encephalopathy (DEE) with evidence of modulation of voltage-gated sodium channels Na<sub>v</sub>1.2 and Na<sub>v</sub>1.6. We aim to expand the phenotypic spectrum of <i>FGF12-</i>related epilepsy with emphasis on precision therapy. We describe 12 patients: eight with neonatal onset seizures with the recurrent p.Arg52His (c.155 G &gt; A) variant, two with a previously unreported p.Glu153Gly (c.458 A &gt; G) variant, one with a p.Gly50Ser (c.148 G &gt; A) variant, and one with a de novo whole-gene duplication. Atypical absence seizures were present in 5/12 patients. Brain MRI was normal in 10/12; one patient’s MRIs showed progressive cerebellar atrophy, and one patient’s MRI showed a hemispheric infarct. 8 patients promptly started on sodium channel blockers became seizure-free with good developmental outcomes while 4 developed DEE. In summary, we expand the phenotypic spectrum of <i>FGF12-</i>related epilepsy and discuss the role of early precision therapy in developmental and epilepsy outcomes.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Expanding the phenotypic spectrum of FGF12-epilepsy—does prompt precision therapy affect outcomes?

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月25日

查看全文
  • Leo Arkush,
  • Kristina Karandasheva,
  • Frédérique Ouellet,
  • Alissa M. D’Gama,
  • Beth Rosen Sheidley,
  • Nicole S. Y. Liang,
  • Vann Chau,
  • Gregory Costain,
  • Lacey Smith,
  • Anoushka Alwis,
  • Christin Eltze,
  • Annapurna Poduri,
  • Felice D’Arco,
  • Josh Adams,
  • Kristen Lee,
  • Jaspal Singh,
  • Alexander P. Y. Brown,
  • Arjuna Nagendran,
  • Ben Pode-Shakked,
  • Michal Tzadok,
  • Bruria Ben Zeev,
  • Amy McTague

摘要

Fibroblast growth factor-12 (FGF12) variants have been associated with developmental and epileptic encephalopathy (DEE) with evidence of modulation of voltage-gated sodium channels Nav1.2 and Nav1.6. We aim to expand the phenotypic spectrum of FGF12-related epilepsy with emphasis on precision therapy. We describe 12 patients: eight with neonatal onset seizures with the recurrent p.Arg52His (c.155 G > A) variant, two with a previously unreported p.Glu153Gly (c.458 A > G) variant, one with a p.Gly50Ser (c.148 G > A) variant, and one with a de novo whole-gene duplication. Atypical absence seizures were present in 5/12 patients. Brain MRI was normal in 10/12; one patient’s MRIs showed progressive cerebellar atrophy, and one patient’s MRI showed a hemispheric infarct. 8 patients promptly started on sodium channel blockers became seizure-free with good developmental outcomes while 4 developed DEE. In summary, we expand the phenotypic spectrum of FGF12-related epilepsy and discuss the role of early precision therapy in developmental and epilepsy outcomes.