Results 171 to 180 of about 66,364 (302)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype. [PDF]

Hum Genome Var
Yoshimatsu H, Kido J, Sawada T, Sugawara K, Misumi Y, Hayashi Y, Fujita A, Matsumoto N, Ueda M, Nakamura K.   +9 more
europepmc   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Single-Stage Bilateral Hip Reconstruction for Kabuki Hip Dysplasia in a Four-Year-Old: A Case Report. [PDF]

Cureus
Shajahan A, Almuqeem MH, Qureshi A.
europepmc   +1 more source

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. [PDF]

, 2020
Ammous, Z, Biderman Waberski, M, Brigatti, KW, Cohen, JS, Comi, AM, Elbendary, HM, Eslahi, A, Genomics, QS, Gleeson, J, Hosny, H, Houlden, H, Marafi, D, Maroofian, R, Mojarrad, M, Person, RE, Poskitt, L, Puffenberger, E, Riazuddin, S, Riazuddin, S, Rosenfeld, JA, Salpietro, V, Scala, M, Shahzad, M, Stanley, V, Usmani, MA, Williams, KB, Xia, F, Zaki, MS   +27 more
core   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

More Than Just a Floppy Baby: Maintaining High Clinical Suspicion of Infant Botulism. [PDF]

Cureus
Sarintra N, Ekdahl R, Sanders SC, Slagle B, Tang K.   +4 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

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement. [PDF]

Clin Case Rep
Świeca A, Rydzanicz M, Ploski R, Szczałuba K.   +3 more
europepmc   +1 more source

Uterine hypotonia. [PDF]

BMJ, 1971
openaire   +5 more sources