A Novel Antisense Oligonucleotide for the Treatment of Early Onset SCN2A Developmental and Epileptic Encephalopathy: A First-in-Patient Report in a Preterm Infant with Refractory Status Epilepticus

被引：0

作者：

Wagner, Matias ^{[1
,2
,3
]}

Nussbaum, Claudia ^{[4
]}

Berecki, Geza ^{[5
]}

Flemmer, Andreas W. ^{[4
]}

Frizzo, Silvana ^{[6
]}

Heer, Farina ^{[2
,3
]}

Heinen, Florian ^{[2
,3
]}

Horton, Robert ^{[6
]}

Motel, William ^{[6
]}

Spar, Brian ^{[6
]}

Corinna, Siegel ^{[7
]}

Huebener, Christoph ^{[8
]}

Stoecklein, Sophia ^{[9
]}

Paolini, Marco ^{[9
]}

Staudt, Martin ^{[10
]}

Tacke, Moritz ^{[2
,3
]}

Wolff, Markus ^{[11
]}

Fazeli, Walid ^{[12
]}

Petrou, Steven ^{[6
]}

Souza, Marcio ^{[6
]}

Borggraefe, Ingo ^{[2
,3
]}

机构：

[1] Tech Univ Munich, Inst Human Genet, Munich, Germany

[2] Ludwig Maxmilians Univ Hosp, Dept Pediat, Munich, Germany

[3] Comprehens Epilepsy Ctr, Munich, Germany

[4] Ludwig Maximilians Univ Hosp, Dept Neonatol, Munich, Germany

[5] Florey Inst Neurosci & Mental Hlth, Ion Channels & Human Dis Grp, Parkville, Vic, Australia

[6] Praxis Precis Med, Boston, MA USA

[7] Ctr Human Genet & Lab Diagnost, Martinsried, Germany

[8] Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Obstet & Gynecol, Munich, Germany

[9] Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Radiol, Munich, Germany

[10] Ludwig Maximilians Univ Hosp, Dept Pediat Palliat Care, Munich, Germany

[11] Swiss Epilepsy Ctr, Klin Lengg AG, Zurich, Switzerland

[12] Univ Hosp Bonn, Childrens Hosp, Dept Pediat Neurol, Bonn, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P22.019.D

引用

页码：1798 / 1798

页数：1

共 6 条

[1] Significant seizure reduction in paediatric participants with early onset SCN2A developmental and epileptic encephalopathy following treatment with elsunersen, a novel antisense oligonucleotide: Findings from the EMBRAVE study
Frizzo, S.
Spar, B.
Dalby, K.
Patel, D.
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Souza, M.
Petrou, S.
EPILEPSIA, 2024, 65 : 48 - 49
[2] A Novel SCN2A Mutation In Neonate Presented With Lidocaine Responsive Early-Onset Epileptic Encephalopathy
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Visudtibhan, A.
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[3] De novo SCN2A mutation in a Chinese infant with severe early-onset epileptic encephalopathy, bronchopulmonary dysplasia, and adrenal hypofunction
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Zhang, Lidan
Huang, Xueqiong
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[4] The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features
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Wang, Jinn-Shyan
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BRAIN & DEVELOPMENT, 2017, 39 (10): : 877 - 881
[5] Severe SCN8A-developmental and epileptic encephalopathy in a preterm infant presenting with malignant migrating focal seizures and early-onset movement disorder
Kim, F. H.
Kang, H. -C.
Lee, J.
Kim, N. H.
Jeon, J. -H.
EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 578 - 578
[6] Novel homozygous AP3B2 frameshift variant (p.Ile214AsnfsTer4) in two sisters with early onset developmental and epileptic encephalopathy: Case report
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Kvaskova, N.
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