Intellectual disability without epilepsy associated with STXBP1 disruption< /strong> < /h2>

Original research article by Hamdan et al. < /em> (2011) . < /p>

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

Following up on their previous research (Hamdan et al. , 2009) , Dr. Hamdan and his team sequenced samples from 50 new individuals with non-syndromic intellectual disability (NSID) . They identified one 21-year-old individual with a   de novo< /em>   mutation (not found in either parent) in the   STXBP1< /em>gene. Unlike their previous findings (where two individuals were reported to have non-specific epilepsy were found to have   STXBP1   < /em>mutations) , the newly identified individual did not have a reported history of epilepsy. He was reported to have a diagnosis of severe intellectual disability (ID) , but had no history abnormal EEGs or brain imaging. The individual did not experience any muscle weakness (hypotonia) , but did have a history of tremors. This finding supports the idea that the   STXBP1   < /em>gene may be linked to a wider range or spectrum of features than previously understood. < /p>

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