Sage Journals: Discover world-class research

Open access

Case report

First published 2015-10

Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome

Liu Chen, Bing Chen, Wuilin Leng [...]

Journal of International Medical Research

Retricted access

Brief report

First published 2021-10-26

Early-Onset Dementia Associated with a Heterozygous,Nonsense,and de novo Variant in the MBD5 Gene

Guillermo González-Ortega, Sara Llamas-Velasco, Ana Arteche-López [...]

Journal of Alzheimer’s Disease

Open access

Case report

First published 2026-1

Prenatal Isolated Congenital Diaphragmatic Hernia: A Rare Clinical Presentation of a GATA4 Pathogenic Variant

Nea Tulonen, Jussi Tallus, Heidi Kaprio [...]

Pediatric and Developmental Pathology

Open access

Article commentary

First published 2019-3

PUMILIO1 Links Epilepsy to Spinocerebellar Ataxia

Kyle A. Lyman, Dane M. Chetkovich

Epilepsy Currents

Retricted access

Case report

First published 2025-5

A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in GATA6 : A Fetal Case Report

Sihem Darouich, Samia Darouich, Dorsaf Gtari [...]

Pediatric and Developmental Pathology

Open access

Review article

First published 2025

Roadmap to advance therapeutics for SYNGAP1 -related disorder: a patient organization perspective from SynGAP Research Fund

J. Michael Graglia, Aaron J. Harding, Kathryn A. Helde

Therapeutic Advances in Rare Disease

Open access

Article commentary

First published 2021-1

TANGO With SCN1A: Can This Molecular Dance Defeat Dravet Syndrome?

Jacy L. Wagnon

Epilepsy Currents

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

Open access

Article commentary

First published 2020-7

Gene Therapy in Models of Severe Epilepsy due to Sodium Channelopathy

Ethan M. Goldberg

Epilepsy Currents

Open access

Article commentary

First published 2019-7

Beyond Dravet Syndrome: Characterization of a Novel,More Severe SCN1A-Linked Epileptic Encephalopathy

Veronica C. Beck, Jacob M. Hull, Lori L. Isom

Epilepsy Currents

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