Results 321 to 330 of about 1,412,344 (374)

Nonsense Mutation

, 2001

openalex   +1 more source

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death, and disease duration) and pathogenicity of individual genotypes were selected
Alessandro Simonati, Francesco Pezzini, Nardo Nardocci, CLNet Consortium, C Aiello, R Battini, R Biancheri, M Bonsignore, R Carrozzo, B Dalla Bernardina, S Della Vecchia, S Doccini, A Donati, M Filocamo, B Garavaglia, T Granata, S Grosso, AM Laverda, V Leuzzi, C Marini, M Mastrangelo, T Messena, M Salandin, S Sartori, N Specchio, P Striano, F Taioli, A Tessa, E Veneselli, Filippo M. Santorelli   +29 more
wiley   +1 more source

Telepathy, Other Minds, and Category Errors

European Journal of Philosophy, EarlyView.
Abstract In this paper, I explore several issues surrounding what is called “telepathy” in the context of the problem of other minds. I begin with a quick review of the conditions in which this notion arose and the difficulties to which it gave rise upon its introduction.
Sébastien Motta
wiley   +1 more source

kcnb1 loss of function in zebrafish causes neurodevelopmental and epileptic disorders associated with γ‐aminobutyric acid dysregulation

Epilepsia, EarlyView.
Abstract Objective KCNB1 encodes an α‐subunit of the delayed‐rectifier voltage‐dependent potassium channel Kv2.1. De novo pathogenic variants of KCNB1 have been linked to developmental and epileptic encephalopathies (DEEs), diagnosed in early childhood and sharing limited treatment options.
Lauralee Robichon, Claire Bar, Anca Marian, Lisa Lehmann, Solène Renault, Edor Kabashi, Sorana Ciura, Rima Nabbout   +7 more
wiley   +1 more source

Electrical Status Epilepticus during Sleep in a Male Filipino with Rare Nonsense Mutation Variant of Sotos Syndrome on Carbamazepine Monotherapy. [PDF]

Acta Med Philipp
Lappay JI, Sanchez-Gan BC, Abadingo ME.
europepmc   +1 more source

An Alternate Translation Initiation Site Circumvents an Amino-Terminal DAX1 Nonsense Mutation Leading to a Mild Form of X-Linked Adrenal Hypoplasia Congenita

, 2003
Gökhan Özışık, Giovanna Mantovani, John C. Achermann, Luca Persani, Anna Spada, Jeffrey Weiss, Paolo Beck‐Peccoz, J. Larry Jameson   +7 more
openalex   +1 more source

SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association

Epilepsia, EarlyView.
Abstract Objective The SCN9A gene is primarily expressed in nociceptive pathways within the peripheral nervous system, and pathogenic variants are associated with human pain disorders. In recent years, several studies have proposed SCN9A as a monogenic cause of epilepsy.
Ismael Ghanty, Eduardo Perez‐Palma, Camilo Villaman, Daniel Stobo, Joseph Symonds, Sameer Zuberi, Dennis Lal, Andreas Brunklaus   +7 more
wiley   +1 more source

A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN). [PDF]

Heliyon
Peng Q, Cui Y, Wu J, Wu L, Liu J, Han Y, Lu G.   +6 more
europepmc   +1 more source