Results 141 to 150 of about 45,554 (278)

X-linked intellectual disability, Nascimento type [PDF]

, 2020
openaire   +1 more source

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source

Women with epilepsy: Evidence‐based counseling across the lifespan

Epilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn, Georgia Ramantani, Dominique Flügel, Verena Gaus, Susanne Schubert‐Bast, Elisabeth Sellitto, Jennifer Bausch, Bettina Schmitz   +7 more
wiley   +1 more source

X-linked intellectual disability, Hedera type [PDF]

, 2020
openaire   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Emerging role of <i>KDM5C</i> in X-linked intellectual disability based on human genetic data and zebrafish models. [PDF]

Front Mol Neurosci
Liao B, Chen M, Huang Y, Shuai M, Xu L, He S, Huang H.   +6 more
europepmc   +1 more source

The X-linked intellectual disability gene product and E3 ubiquitin ligase KLHL15 degrades doublecortin proteins to constrain neuronal dendritogenesis. [PDF]

J Biol Chem, 2021
Song J, Merrill RA, Usachev AY, Strack S.   +3 more
europepmc   +1 more source

X-linked intellectual disability, Shashi type [PDF]

, 2020
openaire   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

X-linked intellectual disability, Brooks type [PDF]

, 2020
openaire   +1 more source