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>
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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>
< /p>
< /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>
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