Results 151 to 160 of about 202,258 (245)

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Convergent validity, responsiveness, and meaningful within-subject change of the PROM-Ataxia in spinocerebellar ataxias. [PDF]

J Neurol
Leeuwenberg KE, van Prooije TH, Reniers C, Kapteijns KCJ, Maas RPPWM, van de Warrenburg BP.   +5 more
europepmc   +1 more source

Recent Advance for PVDF Based Flexible Piezoelectric Sensors

EcoEnergy, EarlyView.
This review focus on the structural regulation of PVDF via boundary confinement, blending regulation, electric‐field‐assisted orientation, and chemical modification for flexible piezoelectric sensors. ABSTRACT The rapid advancement of flexible electronics, wearable devices, and biomedical engineering has spurred increasing demand for sensor materials ...
Chaoran Tan, Aokai Yang, Yuyang Ling, Meilin Liu, Liang Huang   +4 more
wiley   +1 more source

Classic Ataxia-Telangiectasia associated with a homozygous missense ATM variant: A case report. [PDF]

Mol Genet Metab Rep
Al-Frejat Z, Azzam L, Hanna G, Hamza DA, Al Khayer G.   +4 more
europepmc   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Neurological disease progression in adults with ataxia-telangiectasia: a longitudinal study. [PDF]

Brain
Hensiek A, Bottolo L, Tiet MY, Harrison E, Ashby E, Olympio C, Biggs H, Everett N, Schon K, Horvath R.   +9 more
europepmc   +1 more source

Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report

Epileptic Disorders, EarlyView.
Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori, Hiroshi Terashima, Yu kakimoto, Mitsuhiro Kato, Shumpei Uchino   +4 more
wiley   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Improving Video-Based Prediction of Cerebellar Ataxia Severity Using a Pretrained Deep Learning Model. [PDF]

Brain Behav
Eguchi K, Yaguchi H, Uwatoko H, Iida Y, Yamada M, Hamada S, Sato K, Honma S, Takei A, Kawashima A, Moriwaka F, Fukazawa T, Togo R, Ogawa T, Haseyama M, Hirata K, Kudo K, Tanaka S, Yabe I.   +18 more
europepmc   +1 more source