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>   < /p>   < /p> English Afrikaans Albanian Amharic Arabic Armenian Azerbaijani Basque Belarusian Bengali Bosnian Bulgarian Catalan Cebuano Chichewa Chinese (Simplified) Chinese (Traditional) Corsican Croatian Czech Danish Dutch English Esperanto Estonian Filipino Finnish French Frisian Galician Georgian German Greek Gujarati Haitian Creole Hausa Hawaiian Hebrew Hindi Hmong Hungarian Icelandic Igbo Indonesian Irish Italian Japanese Javanese Kannada Kazakh Khmer Korean Kurdish (Kurmanji) Kyrgyz Lao Latin Latvian Lithuanian Luxembourgish Macedonian Malagasy Malay Malayalam Maltese Maori Marathi Mongolian Myanmar (Burmese) Nepali Norwegian Pashto Persian Polish Portuguese Punjabi Romanian Russian Samoan Scottish Gaelic Serbian Sesotho Shona Sindhi Sinhala Slovak Slovenian Somali Spanish Sudanese Swahili Swedish Tajik Tamil Telugu Thai Turkish Ukrainian Urdu Uzbek Vietnamese Welsh Xhosa Yiddish Yoruba Zulu We care about your data, and we'd like to use cookies to give you a smooth browsing experience. Please agree and read more about our privacy policy.AGREE