Results 241 to 250 of about 2,601,816 (350)

Intellectual disability-spasticity-ectrodactyly syndrome [PDF]

, 2020
openaire   +1 more source

Perils and progress in epilepsy surgery utilization: Twenty‐five years later

Epilepsia, EarlyView.
Abstract More than 25 years have passed since the first randomized controlled trial (RCT) established that surgery is superior to continued anti‐seizure medication (ASM) for drug‐resistant temporal lobe epilepsy, and nearly as long since a joint practice parameter urged that appropriate surgical candidates be referred to a specialized center for ...
Dario J. Englot
wiley   +1 more source

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features. [PDF]

Front Genet, 2018
Straniero L, Rimoldi V, Soldà G, Bellini M, Biasucci G, Asselta R, Duga S.   +6 more
europepmc   +1 more source

What types of day or creative activities are most beneficial for promoting social inclusion and well-being among adults with intellectual disabilities, including those with Down syndrome?

Tripdatabase
openalex   +1 more source

How do creative activities in day programs impact the well-being of individuals with intellectual disabilities or Down syndrome?

Tripdatabase
openalex   +2 more sources

FRMPD4 , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss [PDF]

Daniel Liedtke, K Rak, Katrina M. Schrode, Philip Hehlert, Niloofar Chamanrou, Daniel Bengl, Radoslaw Katana, Soganad Heydaran, Julia Doll, Mei Han, Indrajit Nanda, Pingkalai R. Senthilan, Lukas Juergens, Linda Bieniussa, Johannes Voelker, Cordula Neuner, Michaela A. H. Hofrichter, Jörg Schröder, Renske T.W. Schellens, Erik de Vrieze, Erwin van Wijk, Ulrich Zechner, Stefan Herms, Per Hoffmann, Tobias Müller, Marcus T. Dittrich, Oliver Bartsch, Peter Michael Krawitz, Eva Klopocki, Wafaa E. Shehata-Dieler, Reza Maroofian, Tao Wang, Paul F. Worley, Martin C. Göpfert, Hamid Galehdari, Amanda M. Lauer, Thomas Haaf, Barbara Vona   +37 more
openalex   +1 more source

Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex

Epilepsia, EarlyView.
Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Dongjun Guo, Lirong Han, Nicholas R. Rensing, Laura A. Jansen, Michael Wong   +4 more
wiley   +1 more source

What are the effects of participating in creative activities on the social inclusion and wellbeing of adults with intellectual disabilities or Down syndrome?

Tripdatabase
openalex   +1 more source

Rare non-syndromic intellectual disability [PDF]

, 2020
openaire   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source