المؤلفون: Roshandel, Delnaz, Sanders, Eric J., Shakeshaft, Amy, Panjwani, Naim, Lin, Fan, Collingwood, Amber, Hall, Anna, Keenan, Katherine, Deneubourg, Celine, Mirabella, Filippo, Topp, Simon, Zarubova, Jana, Thomas, Rhys H., Talvik, Inga, Syvertsen, Marte, Striano, Pasquale, Smith, Anna B., Selmer, Kaja K., Rubboli, Guido, Orsini, Alessandro, Ng, Ching Ching, Møller, Rikke S., Lim, Kheng Seang, Hamandi, Khalid, Greenberg, David A., Gesche, Joanna, Gardella, Elena, Fong, Choong Yi, Beier, Christoph P., Andrade, Danielle M., Jungbluth, Heinz, Richardson, Mark P., Pastore, Annalisa, Fanto, Manolis, Pal, Deb K., Strug, Lisa J., Šobíšková, Zuzana, Pracoviste, Cechovaz, Kajsova, Michaela, Miranda, Maria, Bala, Pronab, Kitching, Amy, Irwin, Kate, Walding, Lorna, Adams, Lynsey, Jegathasan, Uma, Swingler, Rachel, Wane, Rachel, Aram, Julia, Sudarsan, Nikil, Mullan, Dee, Ramsay, Rebecca, Richmond, Vivien, Sargent, Mark, Frattaroli, Paul, Taylor, Matthew, Home, Marie, Uka, Sal, Kilroy, Susan, Nortcliffe, Tonicha, Salim, Halima, Holroyd, Kelly, McQueen, Alison, Mcaleer, Dympna, Jayachandran, Dina, Egginton, Dawn, MacDonald, Bridget, Chang, Michael, Deekollu, David, Gaurav, Alok, Hamilton, Caroline, Natarajan, Jaya, Takon, Inyan, Cotta, Janet, Moran, Nick, Bland, Jeremy, Belderbos, Rosemary, Collier, Heather, Henry, Joanne, Milner, Matthew, White, Sam, Koutroumanidis, Michalis, Stern, William, Quirk, Jennifer, Ceballos, Javier Peña, Papathanasiou, Anastasia, Stavropoulos, Ioannis, Lozsadi, Dora, Swain, Andrew, Quamina, Charlotte, Crooks, Jennifer, Majeed, Tahir, Raj, Sonia, Patel, Shakeelah, Young, Michael, Maguire, Melissa, Ray, Munni, Peacey, Caroline, Makawa, Linetty, Chhibda, Asyah, Sacre, Eve, Begum, Shanaz, O’ Malley, Martin, Yeung, Lap, Holliday, Claire, Woodhead, Louise, Rhodes, Karen, Ellawela, Shan, Glenton, Joanne, Calder, Verity, Davis, John, McAlinden, Paul, Francis, Sarah, Robson, Lisa, Lanyon, Karen, Mackay, Graham, Stephen, Elma, Thow, Coleen, Connon, Margaret, Kirkpatrick, Martin, MacFarlane, Susan, Macleod, Anne, Rice, Debbie, Kumar, Siva, Campbell, Carolyn, Collins, Vicky, Whitehouse, William, Giavasi, Christina, Petrova, Boyanka, Brown, Thomas, Picton, Catie, O’Donoghue, Michael, West, Charlotte, Navarra, Helen, Slaght, Seán J., Edwards, Catherine, Gribbin, Andrew, Nelson, Liz, Warriner, Stephen, Angus-Leppan, Heather, Ehiorobo, Loveth, Camara, Bintou, Samakomva, Tinashe, Mohanraj, Rajiv, Parker, Vicky, Pandey, Rajesh, Charles, Lisa, Cotter, Catherine, Desurkar, Archana, Hyde, Alison, Harrison, Rachel, Reuber, Markus, Clegg, Rosie, Sidebottom, Jo, Recto, Mayeth, Easton, Patrick, Waite, Charlotte, Howell, Alice, Smith, Jacqueline, Mariguddi, Shyam, Haslam, Zena, Galizia, Elizabeth, Cock, Hannah, Mencias, Mark, Truscott, Samantha, Daly, Deirdre, Mhandu, Hilda, Said, Nooria, Rees, Mark, Chung, Seo-Kyung, Pickrell, Owen, Fonferko-Shadrach, Beata, Baker, Mark, Scott, Fraser, Ghaus, Naveed, Castle, Gail, Bartholomew, Jacqui, Needle, Ann, Ball, Julie, Clough, Andrea, Sastry, Shashikiran, Busby, Charlotte, Agrawal, Amit, Dickerson, Debbie, Duran, Almu, Khan, Muhammad, Thrasyvoulou, Laura, Irvine, Eve, Tittensor, Sarah, Daglish, Jacqueline, Kumar, Sumant, Backhouse, Claire, Mewies, Claire, Skinner, Denise, Bharat, Rahul, Sharman, Sarah-Jane, Saraswatula, Arun, Cockerill, Helen, Consortium, the BIOJUME

المصدر: Roshandel , D , Sanders , E J , Shakeshaft , A , Panjwani , N , Lin , F , Collingwood , A , Hall , A , Keenan , K , Deneubourg , C , Mirabella , F , Topp , S , Zarubova , J , Thomas , R H , Talvik , I , Syvertsen , M , Striano , P , Smith , A B , Selmer , K K , Rubboli , G , Orsini , A , Ng , C C , Møller , R S , Lim , K S , ....

الوصف: Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide association, colocalization, polygenic risk score, and pathway analysis of impulsivity in JME (n = 381). Results were followed up with functional characterisation using a drosophila model. We identified genome-wide associated SNPs at 8q13.3 (P = 7.5 × 10−9) and 10p11.21 (P = 3.6 × 10−8). The 8q13.3 locus colocalizes with SLCO5A1 expression quantitative trait loci in cerebral cortex (P = 9.5 × 10−3). SLCO5A1 codes for an organic anion transporter and upregulates synapse assembly/organisation genes. Pathway analysis demonstrates 12.7-fold enrichment for presynaptic membrane assembly genes (P = 0.0005) and 14.3-fold enrichment for presynaptic organisation genes (P = 0.0005) including NLGN1 and PTPRD. RNAi knockdown of Oatp30B, the Drosophila polypeptide with the highest homology to SLCO5A1, causes over-reactive startling behaviour (P = 8.7 × 10−3) and increased seizure-like events (P = 6.8 × 10−7). Polygenic risk score for ADHD genetically correlates with impulsivity scores in JME (P = 1.60 × 10−3). SLCO5A1 loss-of-function represents an impulsivity and seizure mechanism. Synaptic assembly genes may inform the aetiology of impulsivity in health and disease.

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/29c1b359-dfde-485c-9437-39ade91c238dTest

الإتاحة: https://doi.org/10.1038/s41525-023-00370-zTest
https://portal.findresearcher.sdu.dk/da/publications/29c1b359-dfde-485c-9437-39ade91c238dTest
https://findresearcher.sdu.dk/ws/files/242293336/Open_Access_Version.pdfTest

المؤلفون: Allard, Jon, Henley, William, Sellers, Adrian, O'Shaughnessy, Emma, Thomson, Oliver, McLean, Brendan, Parrett, Mary, Rajakulendran, Sanjeev, Watkins, Lance, Maguire, Melissa, Ellawela, Shan, Tittensor, Phil, Sen, Arjune, Mohanraj, Rajiv, Bagary, Manny, Ram, Sunil, Brown, Allan, Shankar, Rohit

المصدر: Epilepsy Behav ; ISSN:1525-5069 ; Volume:158

الوصف: In England, nearly a quarter of people with intellectual disability (PwID) have epilepsy. Though 70 % of PwID have pharmaco-resistant seizures only 10 % are prescribed anti-seizure medication (ASMs) licenced for pharmaco-resistance. Brivaracetam (BRV) licenced in 2016 has had nine post-marketing studies involving PwID. These studies are limited either by lack of controls or not looking at outcomes based on differing levels of ID severity. This study looks at evidence comparing effectiveness and side-effects in PwID to those without ID prescribed Brivaracetam (BRV).

العلاقة: https://doi.org/10.1016/j.yebeh.2024.109906Test; https://pubmed.ncbi.nlm.nih.gov/38936308Test

الإتاحة: https://doi.org/10.1016/j.yebeh.2024.109906Test
https://pubmed.ncbi.nlm.nih.gov/38936308Test

المؤلفون: Allard, Jon, Henley, William, Mclean, Brendan, Sellers, Adrian, Hudson, Sharon, Rajakulendran, Sanjeev, Pace, Adrian, Pashley, Sarah, Maguire, Melissa, Mohan, Monica, Ellawela, Shan, Tittensor, Phil, Ram, Sunil, Bagary, Manny, Shankar, Rohit

المساهمون: UCB pharma Investigator, National Institute for Clinical Research

المصدر: Seizure ; volume 76, page 161-166 ; ISSN 1059-1311

مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine

الإتاحة: https://doi.org/10.1016/j.seizure.2020.02.013Test
https://api.elsevier.com/content/article/PII:S1059131120300546?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1059131120300546?httpAccept=text/plainTest

المؤلفون: Ellawela, Shan, Joseph, Robin, Kulla, Andres, O'Leary, Colin

مصطلحات موضوعية: Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP), London, 23-24 October 2013

الوصف: A 47 year old female presented with sub–acute cognitive decline and personality change, without any significant focal neurology. An MRI scan showed extensive white matter signal change and oedema with a few enhancing focal lesions and minimal mass effect. The radiological differential diagnosis consisted of primary CNS tumour/Lymphoma, Demyelination and CNS vasculitis. Oligoclonal bands were only detected in CSF, but numerous other investigations turned out to be unhelpful. An image guided, burr–hole brain biopsy of the most prominent and enhancing left frontal lesion, showed non–specific reactive changes, which proved to be non–diagnostic. Patient declined a repeat biopsy. Subsequently she was treated with high dose pulsed steroids and showed a marked clinical improvement. Initial follow up imaging showed some radiological improvement and she remained clinically stable over the ensuing months. Serial imaging there after, continued to show a chaotic background, with regression of earlier lesions and appearance of new lesions. There was also a changing enhancement pattern of some of the existing lesions. During this period she only had a single episode of right leg weakness, gait ataxia and intermittent visual impairment. This too responded well to a course of high dose steroids. An aggressive, multifocal, tumefactive demyelinating process was thought to be the most likely diagnosis at this stage. She was then commenced on Natalizumab, nearly a year after her first presentation. After two doses of Natalizumab, she presented acutely with left sided focal motor seizures and a left hemiparesis. Neuroimaging at this stage showed clear radiological deterioration. A repeat brain biopsy was again declined by the patient. Following a further dose of Natalizumab and continuing clinical and radiological progression, an open brain biopsy was finally carried out. This showed a high grade B–cell Non Hodgkin Lymphoma. She has since been commenced on intrathecal Methotrexate and also underwent whole brain radiotherapy. This is ...

وصف الملف: text/html

العلاقة: http://jnnp.bmj.com/cgi/content/short/84/11/e2-dyTest; http://dx.doi.org/10.1136/jnnp-2013-306573.215Test

الإتاحة: https://doi.org/10.1136/jnnp-2013-306573.215Test
http://jnnp.bmj.com/cgi/content/short/84/11/e2-dyTest

المؤلفون: Allard, Jon, Lawthom, Charlotte, Henley, William, Mclean, Brendan, Hudson, Sharon, Tittensor, Phil, Rajakulendran, Sanjeev, Ellawela, Shan, Pace, Adrian, Shankar, Rohit

المصدر: Acta Neurologica Scandinavica; Mar2021, Vol. 143 Issue 3, p256-260, 5p

مصطلحات موضوعية: INTELLECTUAL disabilities, PEOPLE with intellectual disabilities, ACETATES, DRUG prescribing, ANTICONVULSANTS

مصطلحات جغرافية: UNITED Kingdom

مستخلص: Background: A quarter of people with intellectual disability (ID) have epilepsy, compared to approximately one in a hundred across the general population. Evidence for the safe and effective prescribing of antiepileptic drugs (AEDs) for those with ID is, however, limited. Aims of Study: This study seeks to strengthen the research evidence around Eslicarbazepine Acetate (ESL), a new AED, by comparing response of individuals with ID to those from the general population who do not have ID. Methods: A single data set was created through retrospective data collection from English and Welsh NHS Trusts. The UK‐based Epilepsy Database Research Register (Ep‐ID) data collection and analysis method were used. Results: Data were collected for 93 people (36 ID and 57 'no ID'). Seizure improvement of '>50%' was higher at 12 months for 'no ID' participants (56%), compared to ID participants (35%). Retention rates were slightly higher for those with ID (56% compared to 53%). Neither difference was significant. Conclusions: Tolerance and Efficacy for ID and 'no ID' people in our data set were similar. Seizure improvement and retention rates were slightly lower than that found in other European data sets, but findings strengthen the evidence for the use of ESL in the ID population. [ABSTRACT FROM AUTHOR]

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