Disorders

Epileptic Encephalopathy, Early Infantile, 4

Synonym(s): EIEE4, Ohtahara Syndrome

Gene	Locus	Protein
STXBP1	9q34.1	Syntaxin-binding protein 1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
University of Goettingen, Institute of Human Genetics - Goettingen, Germany

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.