Results 161 to 170 of about 640,277 (286)

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

Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene. [PDF]

Front Genet
Wang QY, Huang JJ, Wang FC, He JW.
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

Ataluren for the treatment of people living with nonsense mutation Duchenne muscular dystrophy: a plain language summary of Study 041. [PDF]

J Comp Eff Res
Wu S, Vlodavets D, de Queiroz Campos Araujo AP, Castle J.   +3 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enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.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

A nonsense mutation in the Mocos gene induces xanthinuria, obstructive nephropathy, and anemia in rats. [PDF]

Exp Anim
Urasaki M, Nagasaka K, Kido M, Hayashi K, Watanabe A, Hattori K, Sekiguchi T, Kuwamura M, Tanaka M, Mashimo T, Kuramoto T.   +10 more
europepmc   +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

Heterozygous Nonsense Mutation in the Nuclear Transport Factor <i>KPNA7</i>, a Maternal Factor Active in Embryonic Tissues, Causes Autosomal Dominant Otosclerosis. [PDF]

Int J Mol Sci
Benteau T, Abdelfatah N, Griffin A, Penney C, Hu P, Stanton SG, Zhai G, Maheu M, Maheu M, French CR, Young TL.   +10 more
europepmc   +1 more source

Neurolathyrism in Sub‐Saharan Africa—Assessing the Neurotoxic Risks of Lathyrus sativus Amid Drought and Food Security Challenges

Food Safety and Health, EarlyView.
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew, Muhammad Umar, Pakeezah Tabasum, Maria Qadri, Talha Farooq, Eskeatnaf Yosef Getachew, Zemichael Getu Alemayehu, Eden Haile Hagos, Hailemariam Shimelis Gebeyehu, Hanna Tsehay Abebe, Nuradin Abdi Ali, David Chinaecherem Innocent, Temesgen Mamo Sharew   +12 more
wiley   +1 more source

Case Report: First report of a novel homozygous nonsense mutation in the <i>CYBA</i> gene causing chronic granulomatous disease. [PDF]

Front Immunol
Wang WY, Ma PP, Wang SY, Wang YJ.
europepmc   +1 more source