STXBP1 Encephalopathy< /strong> < /h2>

Original research article by Stamberger et al< /em> . (2016) . < /p>

Read the abstract here< /a> . < /p>

The¬ STXBP1< /em> < /i> ¬ †gene has a role in brain signaling and is most commonly linked with Ohtahara syndrome, a syndrome characterized by seizures and EEG (electroencephalograms) abnormalities presenting in infancy. As access to and uptake of genetic testing has increased, researchers have identified new gene changes (mutations) in the¬ STXBP1< /em> < /i> ¬ †gene, allowing us to broaden our understanding of the range of features associated with¬ STXBP1< /em> < /i> . < /p>

In this article, Dr. Stamberger and her team identified 45 individuals with¬ STXBP1¬ < /em> < /i>mutations through research and diagnostic populations. They performed a literature review of current¬ STXBP1< /em> < /i> ¬ †research and compared the observed features in the newly-identified 45 individuals with 102 other individuals with¬ STXBP1< /em> < /i> ¬ †mutations who were previously published in other research articles. < /p>

400;">Ranging from 6 months to 56 years in age, researchers compared diagnoses (see below) and features observed in the 147 individuals with¬ STXBP1¬ < /em> < /i>mutations. All 147 individuals were reported as having some degree of intellectual disability (ID) , with approximately 88.4% categorized as severe or profound ID. The majority of individuals (approximately 95% ) were found to have an epilepsy-related diagnosis, with onset early in life, which likely prompted genetic testing in the first place. Over 60% of those diagnosed with a form of epilepsy have a history of abnormal EEGs. Autism was observed in approximately 1 in 5 individuals and impaired or delayed motor functioning were frequently reported. < /span> < /p>

100% ; border: 1px solid black;">
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;" colspan="2"> STXBP1-Associated Diagnoses Seen in 147 Individuals< /strong> < /td> < /tr>
#ffbcb0; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Diagnosis< /strong> < /td> #ffbcb0; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Percentage of Individuals with Diagnosis ( % ) < /strong> < /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Early-onset epileptic encephalopathy (EOEE) < /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">53< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Ohtahara Syndrome< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">21< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> West Syndrome< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">10< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Intellectual Disability (ID) without epilepsy< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Intellectual Disability (ID) with epilepsy< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">6< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Dravet Syndrome< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">2< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Early myoclonic encephalopathy (EME) < /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">1< /td> < /tr> < /tbody> < /table>

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