TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Background: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. Case Report: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings. The mutations included a missense change c.457G>A (p.Glu157Lys), and a novel frameshift mutation c.545del (p.Thr182Serfs*6). Discussion: We propose that TBC1D24-related diseases should be in the differential diagnosis for children with polymyoclonus

<i>TBC1D24</i> Mutations in a Sibship with Multifocal Polymyoclonus

<p><strong>Background:</strong>&nbsp;Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus.</p><p><strong>Case Report:</strong>&nbsp;A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in&nbsp;<em>TBC1D24</em>, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings. The mutations included a missense change c.457G&gt;A (p.Glu157Lys), and a novel frameshift mutation c.545del (p.Thr182Serfs*6).</p><p><strong>Discussion:</strong>&nbsp;We propose that&nbsp;<em>TBC1D24-</em>related diseases should be in the differential diagnosis for children with polymyoclonus.</p><p>&nbsp;</p

<i>TBC1D24</i> Mutations in a Sibship with Multifocal Polymyoclonus

<p><strong>Background:</strong>&nbsp;Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus.</p><p><strong>Case Report:</strong>&nbsp;A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in&nbsp;<em>TBC1D24</em>, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings. The mutations included a missense change c.457G&gt;A (p.Glu157Lys), and a novel frameshift mutation c.545del (p.Thr182Serfs*6).</p><p><strong>Discussion:</strong>&nbsp;We propose that&nbsp;<em>TBC1D24-</em>related diseases should be in the differential diagnosis for children with polymyoclonus.</p><p>&nbsp;</p

Supplemental Data: TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. Case Report: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings. The mutations included a missense change c.457G.A (p.Glu157Lys), and a novel frameshift mutation c.545del (p.Thr182Serfs*6). Discussion: We propose that TBC1D24-related diseases should be in the differential diagnosis for children with polymyoclonus

“I’d be expecting caviar in lectures”: the impact of the new fee regime on undergraduate students’ expectations of Higher Education

The introduction of the new tuition fee regime in the UK has resulted in growing concerns about the impact on students’ expectations of their university experiences (e.g. Jones in Perspectives 14(2):44–48, 2010). This is coupled with reports from those such as the OIA (Office of the Independent Adjudicator (2012) Annual Report. Accessed on July 22, 2013. Retrieved from, http://oiahe.org.uk/media/88650/oia-annual-report-2012.pdf) which detailed the rise in the number of student complaints year on year. The current study explored undergraduate psychology students’ (N = 62) expectations and derived experiences of Higher Education through a series of focus groups. In particular, a focus on students’ perceptions of level of support, contact time, and resources were explored. These were undertaken both before (n = 21) and after (n = 41) the introduction of the fee rise, to provide a cross-sectional comparison of the potential changes. Thematic analysis of the narratives indicated minimal support for the idea that increased tuition fees had heightened expectations in Higher Education. Additionally, although there were some discrepancies between students’ expectations and experiences, particularly in relation to level of support and contact time, this did not have a detrimental impact on satisfaction of their University experiences. This was related to the fact that these experiences exceeded their original expectations. One noteworthy finding however, suggested that higher tuition fees were related to greater expectations of graduate employability. The implications of this are discussed, as well as the implications of student satisfaction (using models such as the Student Satisfaction Index Model; Zhang et al. in Int J Bus Manag 3(9):46–51, 2008), for institutional policies of recruitment and retention