Results 91 to 100 of about 27,643 (268)

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome

Genes, Brain and Behavior, 2021
Rett syndrome is a neurodevelopmental disorder caused predominantly by loss‐of‐function mutations in MECP2, encoding transcriptional modulator methyl‐CpG‐binding protein 2 (MeCP2). Although no disease‐modifying therapies exist at this time, some proposed
B. Collins, Jonathan K. Merritt, Kirsty R. Erickson, J. Neul   +3 more
semanticscholar   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

MECP2

, 2016
This animation shows how the protein MECP2, in conjuction with another protein complex, can act as an "on-off' switch for gene expression.
Howard Hughes Medical Institute (HHMI)
core   +1 more source

Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions

Genes & Development, 2021
In this study, Shao et al. investigated the transcriptional regulation of MeCP2, and identified six putative noncoding regulatory elements of Mecp2, two of which are conserved in humans.
Ying-Yao Shao, Sameer S. Bajikar, Harini P. Tirumala, M. Gutierrez, Joshua D. Wythe, H. Zoghbi   +5 more
semanticscholar   +1 more source

Revisiting the concept that interictal implies asymptomatic: Pulse wave amplitude drops uncover autonomic responses during generalized paroxysmal fast activities

Epilepsia, EarlyView.
Abstract Objective Interictal electroencephalographic (EEG) activities are generally considered asymptomatic. Pulse wave amplitude drop (PWAD) is a marker of autonomic nervous system (ANS) reactivity linked to cardiovascular risk. Generalized paroxysmal fast activity (GPFA) is a major EEG pattern in different epileptic conditions.
Julie Lévi‐Strauss, Valerio Frazzini, Claude Adam, Isabelle Gourfinkel‐An, Sophie Dupont, Vincent Navarro, Vi‐Huong Nguyen‐Michel   +6 more
wiley   +1 more source

Zebrafish mecp2 null-mutation increases anxiety and cortisol levels but no change in adult social preference and larval chemically-induced hyperlocomotion

BMC Neuroscience
Background Methyl CpG binding protein 2 (MECP2) is an essential global modulator of transcription and mutations in MECP2 are the most common cause of Rett syndrome, an X-linked neurodevelopmental disorder.
Soaleha Shams, Pierre Cronell, Jenny Landin, Thomas Pietri, Adrian Ekehorn Gimdal, Petronella Kettunen, Lars Westberg   +6 more
doaj   +1 more source

Dysregulation of BRD4 function underlies the functional abnormalities of MeCP2 mutant neurons

Molecules and Cells, 2020
SUMMARY Rett syndrome (RTT), mainly caused by mutations in the methyl-CpG binding protein 2 (MeCP2), is one of the most prevalent intellectual disorders without effective therapeutics.
Yang-Fei Xiang, Yoshiaki Tanaka, Benjamin Patterson, Sung-Min Hwang, Eriona Hysolli, Bilal Cakir, Kun-Yong Kim, Wanshan Wang, Young-jin Kang, Ethan M. Clement, Mei Zhong, Sang-hun Lee, Y. Cho, P. Patra, G. Sullivan, S. Weissman, In-Hyun Park   +16 more
semanticscholar   +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

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

, 2015
Rett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 35 ...
Pitcher, Meagan R, Schanen, N Carolyn, Merritt, Jonathan K, Herrera, José A, Costa-Mattioli, Mauro, Kochukov, Mikhail Y, Fisher, Amanda R, Buffington, Shelly A, Neul, Jeffrey L   +8 more
core   +1 more source