Results 221 to 230 of about 714,661 (305)

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

A missense mutation in Muc2 promotes gut microbiome and metabolome-dependent colitis-associated tumorigenesis. [PDF]

J Clin Invest
Verna G, De Santis S, Islam BN, Sommella EM, Licastro D, Zhang L, De Almeida Celio F, Miller EN, Merciai F, Caponigro V, Xin W, Campiglia P, Pizarro TT, Chieppa M, Cominelli F.   +14 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

ACE-Dependent Alzheimer's Disease: Blood ACE Phenotyping of the Most Prevalent and Damaging <i>ACE</i> Missense Mutation-Y215C (rs3730025). [PDF]

Biomedicines
Buianova AA, Adzhubei IA, Kryukova OV, Kost OA, Mironenko IV, Kozuch AS, Ilyina GA, Kuznetsova AA, Repinskaia ZA, Churov AV, Dudek SM, Rebrikov DV, Danilov SM.   +12 more
europepmc   +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

Correction: APR-246 induces apoptosis and enhances chemo-sensitivity via activation of ROS and TAp73-Noxa signal in oesophageal squamous cell cancer with TP53 missense mutation. [PDF]

Br J Cancer
Kobayashi T, Makino T, Yamashita K, Saito T, Tanaka K, Takahashi T, Kurokawa Y, Yamasaki M, Nakajima K, Morii E, Eguchi H, Doki Y.   +11 more
europepmc   +1 more source

Computational protein stability analysis of SCN1A missense variants reveals domain‐dependent stability patterns

Epilepsia Open, EarlyView.
Abstract Objective To determine whether computational protein‐stability predictions discriminate pathogenic from benign SCN1A missense variants, and to characterize the structural distribution of predicted destabilization among pathogenic variants. Methods On an AlphaFold3‐predicted Nav1.1 structure, FoldX, and Rosetta Cartesian ΔΔG were computed for a
Youngkyu Shim, Eungu Kang, Naeun Kwak, Suhyun Kim   +3 more
wiley   +1 more source

Cerebral small vessel disease related to a heterozygous missense mutation in HTRA1: A case report. [PDF]

Medicine (Baltimore)
Gao Y, Zheng Y, Lian J, Zeng L, Zeng L.
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

A pathogenic titin missense mutation in hiPSC-derived cardiomyocytes predisposes to ventricular fibrillation in acute ST-segment elevation myocardial infarction. [PDF]

Front Cardiovasc Med
Ji YY, Wu Y, Sun J, Lin XX, Chen XM, Ji CC, Liu LJ, Cheng YJ, Wu SH.   +8 more
europepmc   +1 more source