Results 61 to 70 of about 31,323 (242)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Psychopathology and Epilepsy

Pediatric Neurology Briefs, 2001
The psychopathology of childhood epilepsy was examined by comparing symptoms in 48 children with complex partial seizures (CPS), 39 with primary generalized epilepsy with absence (PGE), and 59 nonepileptic children, aged 5 to 16 years, referred by ...
J Gordon Millichap
doaj   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Electroclinical Features of Absence Epilepsy

Pediatric Neurology Briefs, 2006
Clinical and EEG features of absence seizures in 47 children with newly diagnosed, untreated childhood absence epilepsy (CAE) were analyzed using video-EEG recordings, in a study at University of Otago, Wellington, New Zealand; British Columbia Children ...
J Gordon Millichap
doaj   +1 more source

Multifrequency Dynamics of Cortical Neuromagnetic Activity Underlying Seizure Termination in Absence Epilepsy

Frontiers in Human Neuroscience, 2020
PurposeThis study aimed to investigate the spectral and spatial signatures of neuromagnetic activity underlying the termination of absence seizures.MethodsMagnetoencephalography (MEG) data were recorded from 18 drug-naive patients with childhood absence ...
Jintao Sun, Yuan Gao, Ailiang Miao, Chuanyong Yu, Lu Tang, Shuyang Huang, Caiyun Wu, Qi Shi, Tingting Zhang, Yihan Li, Yulei Sun, Xiaoshan Wang   +11 more
doaj   +1 more source

Two cases of childhood absence epilepsy who showed seizure disappearance after ethosuximide drug eruption

Acta Epileptologica, 2022
Background Recent studies suggest potential roles of immune response in the pathophysiology of epilepsy. Anti-seizure medications (ASMs) are known to have side effects of drug eruption caused by immune responses. A few reports in adults have demonstrated
Takuji Nakamura, Keiko Uda, Muneaki Matsuo, Masafumi Zaitsu   +3 more
doaj   +1 more source

Assessing Strengths and Limitations of Magnetoencephalography Source Imaging With Intracerebral EEG

Advanced Science, EarlyView.
Simultaneous MEG and stereotactic EEG (SEEG) recordings provide a direct validation framework for MEG source imaging in focal epilepsy. Virtual SEEG signals derived from MEG reconstructions reveal significant agreement with intracranial measures of spike localization, resting‐state oscillations, and functional connectivity, while also identifying ...
Jawata Afnan, Maria Fratello, Francesca Bonini, Samuel Medina Villalon, Zhengchen Cai, Jean‐Marc Lina, Jean‐Michel Badier, Fabrice Bartolomei, Jean Gotman, Christian G. Bénar, Christophe Grova   +10 more
wiley   +1 more source

Polydopamine Nanoparticle‐Mediated Precise Near‐Infrared Optical Stimulation for Cognitive Enhancement

Advanced Science, EarlyView.
Polydopamine nanoparticles enable a precise, non‐genetic, and transcranial neuromodulation strategy via near‐infrared photothermal stimulation. By activating TRPV1 channels, this approach specifically enhances hippocampal gamma oscillations, thereby rescuing spatial memory deficits in models of perioperative neurocognitive disorder.
Yan‐Bo Zhou, Qiong Xue, Su‐Xuan Hou, Ke‐Yao Zhang, Wei‐Tong Pan, Ting‐Ting Zeng, Yu‐Ge Wang, Daqing Ma, Chenguang Zhao, Pan‐Miao Liu, Jian‐Jun Yang   +10 more
wiley   +1 more source