Early life seizures and epileptic spasms in <scp><i>STXBP1</i></scp>‐related disorders

202416 citationsJournal Articlebronze Open Access

Authors

Kim Marie Thalwitzer · Children's Hospital of Philadelphia

Julie Xian · Children's Hospital of Philadelphia

Danielle de Campo · Children's Hospital of Philadelphia

Shridhar Parthasarathy · Children's Hospital of Philadelphia

Jan Magielski · Children's Hospital of Philadelphia

Katie Rose Sullivan · Children's Hospital of Philadelphia

James Goss

Abstract

We provide a comprehensive assessment of early onset seizures in STXBP1-DEE and show that the risk of epileptic spasms is not increased following a prior history of early life seizures, nor by certain ASMs. Our study provides baseline information for targeted treatment and prognostication in early life seizures in STXBP1-DEE.

Topics & Keywords

Connexins and lens biology Cellular transport and secretion Genetics and Neurodevelopmental Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Epilepsia

Volume 65, Issue 3, pp. 805-816

DOI: 10.1111/epi.17886

Field-Weighted Citation Impact: 3.74

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