Search Results - "Abrahams, Brett"

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits by Peñagarikano, Olga, Abrahams, Brett S., Herman, Edward I., Winden, Kellen D., Gdalyahu, Amos, Dong, Hongmei, Sonnenblick, Lisa I., Gruver, Robin, Almajano, Joel, Bragin, Anatol, Golshani, Peyman, Trachtenberg, Joshua T., Peles, Elior, Geschwind, Daniel H.

“…Although many genes predisposing to autism spectrum disorders (ASD) have been identified, the biological mechanism(s) remain unclear. Mouse models based on…”
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Advances in autism genetics: on the threshold of a new neurobiology by Abrahams, Brett S, Geschwind, Daniel H

“…Key Points Autism is a he terogeneous syndrome that is defined by impairments in three core domains — social interaction, language and restricted and/or…”
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Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits by Kanellopoulos, Alexandros K., Mariano, Vittoria, Spinazzi, Marco, Woo, Young Jae, McLean, Colin, Pech, Ulrike, Li, Ka Wan, Armstrong, J. Douglas, Giangrande, Angela, Callaerts, Patrick, Smit, August B., Abrahams, Brett S., Fiala, Andre, Achsel, Tilmann, Bagni, Claudia

“…Social impairment is frequently associated with mitochondrial dysfunction and altered neurotransmission. Although mitochondrial function is crucial for brain…”
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Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder by Berko, Esther R, Suzuki, Masako, Beren, Faygel, Lemetre, Christophe, Alaimo, Christine M, Calder, R Brent, Ballaban-Gil, Karen, Gounder, Batya, Kampf, Kaylee, Kirschen, Jill, Maqbool, Shahina B, Momin, Zeineen, Reynolds, David M, Russo, Natalie, Shulman, Lisa, Stasiek, Edyta, Tozour, Jessica, Valicenti-McDermott, Maria, Wang, Shenglong, Abrahams, Brett S, Hargitai, Joseph, Inbar, Dov, Zhang, Zhengdong, Buxbaum, Joseph D, Molholm, Sophie, Foxe, John J, Marion, Robert W, Auton, Adam, Greally, John M

“…DNA mutational events are increasingly being identified in autism spectrum disorder (ASD), but the potential additional role of dysregulation of the epigenome…”
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SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) by Abrahams, Brett S, Arking, Dan E, Campbell, Daniel B, Mefford, Heather C, Morrow, Eric M, Weiss, Lauren A, Menashe, Idan, Wadkins, Tim, Banerjee-Basu, Sharmila, Packer, Alan

“…New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of autism spectrum disorder (ASD) candidate genes. Although…”
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Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks by Nebel, Rebecca A, Zhao, Dejian, Pedrosa, Erika, Kirschen, Jill, Lachman, Herbert M, Zheng, Deyou, Abrahams, Brett S

“…Deletions encompassing the BP1-2 region at 15q11.2 increase schizophrenia and epilepsy risk, but only some carriers have either disorder. To investigate the…”
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A Functional Genetic Link between Distinct Developmental Language Disorders by Vernes, Sonja C, Newbury, Dianne F, Abrahams, Brett S, Winchester, Laura, Nicod, Jérôme, Groszer, Matthias, Alarcón, Maricela, Oliver, Peter L, Davies, Kay E, Geschwind, Daniel H, Monaco, Anthony P, Fisher, Simon E

“…This study shows an association between variants of CNTNAP2 and a diminished ability to repeat nonsense words, a behavioral marker of specific language…”
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Soticlestat, a novel cholesterol 24‐hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice by Hawkins, Nicole A., Jurado, Manuel, Thaxton, Tyler T., Duarte, Samantha E., Barse, Levi, Tatsukawa, Tetsuya, Yamakawa, Kazuhiro, Nishi, Toshiya, Kondo, Shinichi, Miyamoto, Maki, Abrahams, Brett S., During, Matthew J., Kearney, Jennifer A.

“…Objective Dravet syndrome is a severe developmental and epileptic encephalopathy (DEE) most often caused by de novo pathogenic variants in SCN1A. Individuals…”
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Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene by Alarcón, Maricela, Abrahams, Brett S., Stone, Jennifer L., Duvall, Jacqueline A., Perederiy, Julia V., Bomar, Jamee M., Sebat, Jonathan, Wigler, Michael, Martin, Christa L., Ledbetter, David H., Nelson, Stanley F., Cantor, Rita M., Geschwind, Daniel H.

“…Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary…”
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Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L by Nebel, Rebecca A, Kirschen, Jill, Cai, Jinlu, Woo, Young Jae, Cherian, Koshi, Abrahams, Brett S

“…Microcephaly and macrocephaly are overrepresented in individuals with autism and are thought to be disease-related risk factors or endophenotypes. Analysis of…”
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Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2 by Scott-Van Zeeland, Ashley A, Abrahams, Brett S, Alvarez-Retuerto, Ana I, Sonnenblick, Lisa I, Rudie, Jeffrey D, Ghahremani, Dara, Mumford, Jeanette A, Poldrack, Russell A, Dapretto, Mirella, Geschwind, Daniel H, Bookheimer, Susan Y

“…Genetic studies are rapidly identifying variants that shape risk for disorders of human cognition, but the question of how such variants predispose to…”
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Gaboxadol Normalizes Behavioral Abnormalities in a Mouse Model of Fragile X Syndrome by Cogram, Patricia, Deacon, Robert M J, Warner-Schmidt, Jennifer L, von Schimmelmann, Melanie J, Abrahams, Brett S, During, Matthew J

“…Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and autism. FXS is also accompanied by attention problems, hyperactivity,…”
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Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage by Woo, Young Jae, Kanellopoulos, Alexandros K., Hemati, Parisa, Kirschen, Jill, Nebel, Rebecca A., Wang, Tao, Bagni, Claudia, Abrahams, Brett S.

“…Deletions encompassing a four-gene region on chromosome 15 (BP1-BP2 at 15q11.2), seen at a population frequency of 1 in 500, are associated with increased risk…”
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A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus by Woo, Young Jae, Wang, Tao, Guadalupe, Tulio, Nebel, Rebecca A, Vino, Arianna, Del Bene, Victor A, Molholm, Sophie, Ross, Lars A, Zwiers, Marcel P, Fisher, Simon E, Foxe, John J, Abrahams, Brett S

“…Copy number variants (CNVs) at the Breakpoint 1 to Breakpoint 2 region at 15q11.2 (BP1-2) are associated with language-related difficulties and increased risk…”
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Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders by Bakkaloglu, Betul, O'Roak, Brian J., Louvi, Angeliki, Gupta, Abha R., Abelson, Jesse F., Morgan, Thomas M., Chawarska, Katarzyna, Klin, Ami, Ercan-Sencicek, A. Gulhan, Stillman, Althea A., Tanriover, Gamze, Abrahams, Brett S., Duvall, Jackie A., Robbins, Elissa M., Geschwind, Daniel H., Biederer, Thomas, Gunel, Murat, Lifton, Richard P., State, Matthew W.

“…Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology. 1 We identified a de novo chromosome 7q…”
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Cholesterol 24-hydroxylase is a novel pharmacological target for anti-ictogenic and disease modification effects in epilepsy by Salamone, Alessia, Terrone, Gaetano, Di Sapia, Rossella, Balosso, Silvia, Ravizza, Teresa, Beltrame, Luca, Craparotta, Ilaria, Mannarino, Laura, Cominesi, Sara Raimondi, Rizzi, Massimo, Pauletti, Alberto, Marchini, Sergio, Porcu, Luca, Zimmer, Till S., Aronica, Eleonora, During, Matthew, Abrahams, Brett, Kondo, Shinichi, Nishi, Toshiya, Vezzani, Annamaria

“…Therapies for epilepsy mainly provide symptomatic control of seizures since most of the available drugs do not target disease mechanisms. Moreover, about…”
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The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors by Dougherty, Joseph D, Maloney, Susan E, Wozniak, David F, Rieger, Michael A, Sonnenblick, Lisa, Coppola, Giovanni, Mahieu, Nathaniel G, Zhang, Juliet, Cai, Jinlu, Patti, Gary J, Abrahams, Brett S, Geschwind, Daniel H, Heintz, Nathaniel

“…The immense molecular diversity of neurons challenges our ability to understand the genetic and cellular etiology of neuropsychiatric disorders. Leveraging…”
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Common variation in the autism risk gene CNTNAP2, brain structural connectivity and multisensory speech integration by Ross, Lars A., Del Bene, Victor A., Molholm, Sophie, Woo, Young Jae, Andrade, Gizely N., Abrahams, Brett S., Foxe, John J.

“…•Common variation in the CNTNAP2 gene affects multisensory speech processing abilities.•Effects of CNTNAP2 variation are mediated by white matter in the human…”
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Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds by Panaitof, S. Carmen, Abrahams, Brett S., Dong, Hongmei, Geschwind, Daniel H., White, Stephanie A.

“…Multiple studies, involving distinct clinical populations, implicate contactin associated protein‐like 2 (CNTNAP2) in aspects of language development and…”
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Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation by FALIVELLI, Giulia, DE JACO, Antonella, LIETTA FAVALORO, Flores, KIM, Hyuck, WILSON, Jennifer, DUBI, Noga, ELLISMAN, Mark H, ABRAHAMS, Brett S, TAYLOR, Palmer, COMOLETTI, Davide

“…Although genetic variations in several genes encoding for synaptic adhesion proteins have been found to be associated with autism spectrum disorders, one of…”
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