Results 141 to 150 of about 43,167 (288)

Investigation of X-linked intellectual disability

, 2013
Este trabalho teve o objetivo de identificar genes candidatos para deficiência mental de herança ligada ao cromossomo X (DMLX). Foram investigadas quatro famílias, nas quais a deficiência mental de causa desconhecida segregava num padrão típico de ...
Santos, José Oliveira dos, José Oliveira dos Santos   +1 more
core   +1 more source

X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX

, 2002
ObjectiveTo describe a new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability (XMESID) and identify the gene defect underlying this disorder.MethodsThe authors studied a family in which six boys over two ...
Berkovic, S., Mulley, J., Hewson, P, Hewson, P., Parasivam, G., Phillips, F., Berkovic, SF, Gecz, J., Reardon, K, Phillips, FL, Stromme, P., Scheffer, IE, Parasivam, G, Stromme, P, Wallace, R., Scheffer, I., Wallace, RH, Reardon, K., Mulley, JC, Gecz, J   +19 more
core   +1 more source

Serum NfL, GFAP, and p‐tau217 in adults with drug‐resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

Epilepsia, EarlyView.
Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie, Inge M. W. Verberk, Jans S. van Ool, Anneke J. J. Rampen, Rebecca Z. Rousset, Nicole I. Wolf, Dederieke A. M. Maes‐Festen, Clara D. M. van Karnebeek, Charlotte E. Teunissen, Erik Boot, Agnies M. van Eeghen   +10 more
wiley   +1 more source

Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy

Epilepsia, EarlyView.
Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann, Amanda Stuart, Navprabhjot Kaur, Samuel Wiebe, Nathalie Jette, Shaily Singh, Felippe Borlot, Susanne Knake, The Calgary Comprehensive Epilepsy Program Collaborators, Paolo Federico, Colin Josephson, William Murphy, Andrea Salmon, Guillermo Delgado Garcia, Walter Hader, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Supporting people with cognitive disabilities in decision making – processes and dilemmas [PDF]

, 2015
The exploratory study found that participants, including those with cognitive disability, mostly supported the broad concept of supported decision making.
Mary Whiteside, Christine Bigby, Jacinta Douglas   +2 more
core  

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. [PDF]

J Inherit Metab Dis, 2021
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK.   +25 more
europepmc   +1 more source

Gamma suppression correlates with thalamic stimulation therapeutic response in intractable epilepsy

Epilepsia, EarlyView.
Abstract Objective In patients with drug‐resistant epilepsy who undergo anterior nucleus of the thalamus (ANT) deep brain stimulation (DBS), efficacy is assessed months after therapy initiation and clinicians have no guidance when choosing stimulation parameters due to the lack of real‐time biomarkers.
Zachary T. Sanger, Xinbing Zhang, Thomas Lisko, Hafsa Farooqi, Steffen Ventz, Sandipan Pati, Thomas R. Henry, David P. Darrow, Michael C. Park, Theoden I. Netoff, Robert A. McGovern   +10 more
wiley   +1 more source

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability. [PDF]

BMC Res Notes, 2021
Benmakhlouf Y, Touraine R, Harzallah I, Zian Z, Ben Makhlouf K, Barakat A, Ghailani Nourouti N, Bennani Mechita M.   +7 more
europepmc   +1 more source

A multiplex assay for X-linked intellectual disability assessment

, 2011
X-linked intellectual disability (XLID) represents a common cause of monogenic mental retardation, where X-linked conditions are easily identified in affected males, who inevitably manifest a phenotype when harboring a mutant allele, due to their ...
Marques, Isabel, Jorge, Paula, Oliveira, Bárbara, Santos, Rosário   +3 more
core