Results 191 to 200 of about 2,601,816 (350)

<i>WDR45</i> variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females. [PDF]

J Med Genet
Abe-Hatano C, Inoue K, Takeshita E, Kawai Y, Tokunaga K, Goto YI.   +5 more
europepmc   +1 more source

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy. [PDF]

Mol Syndromol, 2020
Korenke GC, Schulte B, Biskup S, Neidhardt J, Owczarek-Lipska M.   +4 more
europepmc   +1 more source

Peripheral inflammatory markers and metabolic profiles in temporal lobe epilepsy and functional dissociative seizures

Epileptic Disorders, EarlyView.
Abstract Background Temporal lobe epilepsy (TLE) and functional dissociative seizures (FDS) are distinct conditions that share overlapping clinical, neuropsychiatric, and biological features, including depressive symptoms, obesity‐related metabolic dysregulation, and alterations in systemic inflammatory markers.
Betül Merd, Şeyma Benli, Fatmanur Merd, İnayet Güntürk, Cevat Yazici, Meltem Sönmez, Füsun Ferda Erdoğan   +6 more
wiley   +1 more source

A novel variant of ATRX gene is potentially associated with alpha-thalassemia X-linked intellectual disability syndrome: Case report and literature review. [PDF]

SAGE Open Med Case Rep
Sarah B, Amal T, Bouchaib G, Hind D.
europepmc   +1 more source

The investigation of the T-type calcium channel enhancer SAK3 in an animal model of TAF1 intellectual disability syndrome. [PDF]

Neurobiol Dis, 2020
Janakiraman U, Dhanalakshmi C, Yu J, Moutal A, Boinon L, Fukunaga K, Khanna R, Nelson MA.   +7 more
europepmc   +1 more source

Mental Health in Rare Genetic Syndromes Associated with Intellectual Disability

Jessica Eliza Mingins
openalex   +1 more source

Microcephaly-deafness-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source

Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report

Epileptic Disorders, EarlyView.
Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori, Hiroshi Terashima, Yu kakimoto, Mitsuhiro Kato, Shumpei Uchino   +4 more
wiley   +1 more source

Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome. [PDF]

PLoS Genet
McRae HM, Leong MPY, Bergamasco MI, Garnham AL, Hu Y, Corbett MA, Whitehead L, El-Saafin F, Sheikh BN, Wilcox S, Hannan AJ, Gécz J, Smyth GK, Thomas T, Voss AK.   +14 more
europepmc   +1 more source

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). [PDF]

Am J Med Genet A, 2020
Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Sutton VR.   +17 more
europepmc   +1 more source