Results 161 to 170 of about 747,509 (280)

Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes. [PDF]

Gene, 2023
Castro VL, Paz D, Virrueta V, Estevao IL, Grajeda BI, Ellis CC, Quintana AM.   +6 more
europepmc   +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

Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia A. [PDF]

Mol Med
Testa MF, Pinotti M, Branchini A, Mancuso ME, Bernardi F, Balestra D.   +5 more
europepmc   +1 more source

2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases. [PDF]

Proc Natl Acad Sci U S A, 2022
Bidou L, Bugaud O, Merer G, Coupet M, Hatin I, Chirkin E, Karri S, Demais S, François P, Cintrat JC, Namy O.   +10 more
europepmc   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Ribosomal read through as an alternative therapy for patients with hemophilia with nonsense mutations. [PDF]

J Thromb Haemost
Liu Z, Srivastava V, Hussain A, Zhang B.
europepmc   +1 more source

Three Pediatric Patients with Congenital Nephrogenic Diabetes Insipidus due to AVPR2 Nonsense Mutations and Different Clinical Manifestations: A Case Report. [PDF]

Case Rep Nephrol Dial, 2023
Watanabe H, Tamura H, Furuie K, Kuraoka S, Nakazato H.   +4 more
europepmc   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Fenfluramine in Rett syndrome: A multidimensional clinical study

Epilepsia Open, EarlyView.
Abstract Objective Rett syndrome (RTT) is a severe neurodevelopmental disorder frequently associated with drug‐resistant epilepsy, autonomic dysfunction, respiratory abnormalities, sleep disturbances, and behavioral impairment. Fenfluramine has shown efficacy in developmental and epileptic encephalopathies and may provide broader therapeutic benefits ...
Elena Gonzalez‐Alguacil, Nuria Lamagrande Casanova, Manuel Luján Bonete, David Mansilla Lozano, Juan José García Peñas, María Ballará Petitbó, Rocío Trincado Lamuño, Verónica Cantarín‐Extremera, Raquel Díaz Conejo, César Rodríguez Sánchez, Adrián García Ron, Víctor Soto Insuga   +11 more
wiley   +1 more source