Results 51 to 60 of about 63,715 (255)

Seizure Prediction Analysis of Infantile Spasms

IEEE Transactions on Neural Systems and Rehabilitation Engineering, 2023
Infantile spasms (IS) is a typical childhood epileptic disorder with generalized seizures. The sudden, frequent and complex characteristics of infantile spasms are the main causes of sudden death, severe comorbidities and other adverse consequences ...
Runze Zheng, Jiuwen Cao, Yuanmeng Feng, Xiaodan Zhao, Tiejia Jiang, Feng Gao   +5 more
doaj   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Clinical and electroencephalographic features of children with eating-induced reflex epilepsy: A report of three cases [PDF]

精准医学杂志
Objective To investigate the clinical and electroencephalographic (EEG) features of children with eating-induced reflex epilepsy. Methods A retrospective analysis was performed for the clinical features, EEG findings, treatment, and prognosis of three ...
LIANG Jingjing, NIU Yue, CUI Ya'nan, QIN Jiong, YANG Zhixian
doaj   +1 more source

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations

Molecular Genetics & Genomic Medicine, 2022
Background The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous ...
Tangfeng Su, Yu Yan, Qingqing Hu, Yan Liu, Sanqing Xu   +4 more
doaj   +1 more source

EPILEPTIC SPASMS

Русский журнал детской неврологии, 2015
Epileptic spasms are epileptic seizures with sudden flexion/extension or of the mixed flexion and extension type, mainly involving the proximal and truncal muscles, that are normally longer than myoclonic seizures but shorter than tonic seizures, and last for about 1 second.
K. Yu. Mukhin, M. B. Mironov
openaire   +1 more source

[Liposteroid therapy for refractory epileptic spasms].

No to hattatsu = Brain and development, 2003
Liposteroid was administered intravenously to 6 patients with refractory epileptic spasms. In one case, the spasms initially disappeared but then reappeared after three months. Another case had a transient and slight decrease of epileptic spasms. In the only patient in whom spasms disappeared, EEG abnormalities were greatly improved with diffuse spikes
Shimono(Kagitani), Kuriko, Imai, Katsumi, Idoguchi, Rie, Kamio, Noriko, Okinaga, Takeshi, Ozono, Keiichi   +5 more
openaire   +2 more sources

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2‐Related Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata, Chhitij Tiwari, Zheng Fan, Muge Gucsavas‐Calikoglu, Yael Shiloh‐Malawsky, Kimberly S. Foss, Stephanie N. Peck, Erin L. Heinzen, Chon Lee, Senyene E. Hunter   +9 more
wiley   +1 more source

Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil

Jornal de Pediatria
Objective: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil.
Marília Barbosa de Matos, Paulo Breno Noronha Liberalesso, Tiago dos Santos Bara, Paula Carolina Martins Alves Gomes, Bianca Simone Zeigelboim, Jair Mendes Marques, Mara L. Cordeiro   +6 more
doaj   +1 more source

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 more
wiley   +1 more source

Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies

Neurobiology of Disease, 2015
Early onset and infantile epileptic encephalopathies (EIEEs) are usually associated with medically intractable or difficult to treat epileptic seizures and prominent cognitive, neurodevelopmental and behavioral consequences.
Aristea S. Galanopoulou, Solomon L. Moshé   +1 more
doaj   +1 more source