Sage Journals: Discover world-class research

Retricted access

Review article

First published 2012-6

A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset

Matteo Vatta, Michael B. Tennison, Arthur S. Aylsworth [...]

Journal of Child Neurology

Open access

Review article

First published 2024

STXBP1: fast-forward to a brighter future – a patient organization perspective

James R. Goss, Benjamin Prosser, Ingo Helbig [...]

Therapeutic Advances in Rare Disease

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Research article

First published 2014-2

A Novel Mutation in STXBP1 Gene in a Child With Epileptic Encephalopathy and an Atypical Electroclinical Pattern

Romina Romaniello, Claudio Zucca, Erika Tenderini [...]

Journal of Child Neurology

Retricted access

Research article

First published 2015-4

Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy

Mafalda Sampaio, Ruben Rocha, Saskia Biskup [...]

Journal of Child Neurology

Open access

Article commentary

First published 2019-9

It’s a Storm,It’s a Gale: Epilepsy Initiation From the Corticostriatal Circuit

Libor Velíšek

Epilepsy Currents

Free access

Other

First published 2018-7

Trading up to a New Model of STXBP -Encephalopathy

Matthew Weston

Epilepsy Currents

Free access

Other

First published 2016-9

Heterozygous STXBP1 Mutations Associated with Ohtahara Syndrome: Two Littles Make a Lot

Vanesa Nieto-Estévez, Jenny Hsieh

Epilepsy Currents

Open access

Article commentary

First published 2023-1

Responding to the Need of the Hour: Natural History Studies

Charuta Joshi

Epilepsy Currents

Free access

Other

First published 2016-9

STXBP1 -Related EOEE – E arly O nset E pilepsy AND E ncephalopathy,or is it E arly O nset E pileptic E ncephalopathy?

Ajay Gupta

Epilepsy Currents

Retricted access

Case report

First published 2018-6

Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic Lymphohistiocytosis Type 5

Aren Bezdjian, Hanneke Bruijnzeel, Julia Pagel [...]

Annals of Otology,Rhinology & Laryngology

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