Results 61 to 70 of about 2,252 (179)

Confirmation of infantile spasms resolution by prolonged outpatient EEGs

Epilepsia Open, 2021
Objective There is no consensus on the type or duration of the posttreatment EEG needed for assessing treatment response for infantile spasms (IS). We assessed whether outpatient electroencephalograms (EEGs) are sufficient to confirm infantile spasms (IS)
Christopher J. Yuskaitis, Kate Mysak, Brianna Godlewski, Bo Zhang, Chellamani Harini   +4 more
doaj   +1 more source

Managing Dystonia in Partington Syndrome

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.
Emilie Pichon, Aurea Alioth, Sabina Catalano Chiuvé, André Zacharia, Marta Ruiz‐Lopez, David P. Breen, Florence Zangas‐Gehri, Florent Draye, Aurore Curie, Duncan Wilson, Victor S.C. Fung, Stephen Duma, Joël Fluss, Julien F. Bally   +13 more
wiley   +1 more source

Vigabatrin Monotherapy for Infantile Spasms

Pediatric Neurology Briefs, 1995
The successful management of 21 children with infantile spasms and hypsarrhythmia using vigabatrin monotherapy is reported from the Alder Hey Children’s Hospital, Liverpool, UK.
J Gordon Millichap
doaj   +1 more source

Management practices for West syndrome in South Asia: A survey study and meta‐analysis

Epilepsia Open, 2020
Objectives Considering the dearth of literature on West syndrome (WS) from South Asian countries, this study aimed to evaluate the management practices in South Asia by an online survey and meta‐analysis.
Priyanka Madaan, Prem Chand, Kyaw Linn, Jithangi Wanigasinghe, Mimi Lhamu Mynak, Prakash Poudel, Raili Riikonen, Amit Kumar, Pooja Dhir, Sandeep Negi, Jitendra Kumar Sahu   +10 more
doaj   +1 more source

Rare dysfunctional SCN2A variants are associated with malformation of cortical development

Epilepsia, Volume 66, Issue 3, Page 914-928, March 2025.
Abstract Objective SCN2A encodes the voltage‐gated sodium (Na+) channel α subunit NaV1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
Jérôme Clatot, Christopher H. Thompson, Susan Sotardi, Jinan Jiang, Marina Trivisano, Simona Balestrini, D. Isum Ward, Natalie Ginn, Brunetta Guaragni, Laura Malerba, Angeliki Vakrinou, Mia Sherer, Ingo Helbig, Ala Somarowthu, Sanjay M. Sisodiya, Roy Ben‐Shalom, Renzo Guerrini, Nicola Specchio, Alfred L. George Jr, Ethan M. Goldberg   +19 more
wiley   +1 more source

ACTH in Infantile Spasms

Pediatric Neurology Briefs, 1990
The relationship between dose of ACTH and the initial effect and long-term prognosis was investigated in 41 children with infantile spasms at the Department of Pediatrics, Kyoto University, Kyoto, Japan.
J Gordon Millichap
doaj   +1 more source

Intersection of epilepsy and cardiac health: Insights from electrocardiography and syndromic associations

Epilepsia, EarlyView.
Abstract Epilepsy is a chronic neurological condition marked by recurrent, uncontrolled seizures. Identifying comorbidities in epilepsy is critical for preventing mortality. Among these, the autonomic nervous system's role in epilepsy often manifests as cardiac disorders. Patients with epilepsy (PWE), particularly those with poorly controlled seizures,
Enes Akyuz, Feyza Sule Aslan, Tugba Eyigurbuz   +2 more
wiley   +1 more source

West syndrome: long-term outcomes depending on etiology and treatment (literature review)

Русский журнал детской неврологии, 2019
West syndrome is a severe form of childhood epilepsy associated with drug-resistant seizures and intellectual disability. The disease  is characterized by specific seizures called infantile spasms, hypsarrhythmia on the electroencephalogram, and delayed ...
T. M. Prygunova
doaj   +1 more source

Neuronal oscillatory imbalances in GNAO1‐related disorders associated with disease severity

Epilepsia, EarlyView.
Abstract Objective This study investigates excitatory/inhibitory (E/I) imbalances in GNAO1‐related disorders (GNAO1‐RD), linking neuronal dysfunction to clinical severity using E/I‐sensitive electroencephalography (EEG) analyses. Methods We conducted an observational study involving 12 children with GNAO1‐RD caused by pathogenic variants and 36 age ...
Tongyu Wang, Jana Domínguez‐Carral, William Grant Ludlam, Mar Junyent Segarra, Montserrat Fornaguera Marti, Hilgo Bruining, Kirill A. Martemyanov, Klaus Linkenkaer‐Hansen, Juan Dario Ortigoza‐Escobar   +8 more
wiley   +1 more source

Cannabidiol attenuates epileptic phenotype and increases survival in a mouse model of developmental and epileptic encephalopathy type 1

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo, Fabio Arturo Iannotti, Denise Drongitis, Katiuscia Martinello, Loredana Poeta, Adriano Barra, Gaetano Terrone, Sergio Fucile, Vincenzo Di Marzo, Maria Giuseppina Miano   +9 more
wiley   +1 more source