Results 81 to 90 of about 15,708 (241)

Inherited Developmental and Epileptic Encephalopathies

, 2021
Epileptic encephalopathies often have a genetic etiology. The epileptic activity itself exerts a direct detrimental effect on neurodevelopment, which may add to the cognitive impairment induced by the underlying mutation (“developmental and epileptic ...
Emanuele Bartolini
core   +1 more source

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source

Assessing Children with Poor Coordination Can Be Tricky – A Review on Ataxia and Ataxia Mimickers and a Study of Three Children with Severe Epilepsy

Journal of Multidisciplinary Healthcare, 2021
Sydney Martin,1 Michael S Salman2 1Department of Family Medicine, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada; 2Section of Pediatric Neurology, Department of Pediatrics and Child ...
Martin S, Salman MS
doaj  

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

BMC Neurology, 2019
Background We encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis. Case presentation Whole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 ...
Kouhei Den, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi, Fumiaki Tanaka, Hirokazu Oguni, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Satomi Mitsuhashi, Naomichi Matsumoto   +12 more
doaj   +1 more source

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

Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report

SAGE Open Medical Case Reports
Developmental and epileptic encephalopathies (DEEs), such as SYNGAP1 -related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants.
Norma E de León Ojeda, Fridha V Villalpando-Vargas, Fabrizio A Mortola, Juan C Barrera de Leon, Tania P Sánchez-Murguía, Jonathan A Cisneros-Orozco, Alioth Guerrero-Aranda   +6 more
doaj   +1 more source

Cenobamate use in super‐refractory status epilepticus: A report of three cases

Epileptic Disorders, EarlyView.
Abstract Objectives Super‐refractory status epilepticus (SRSE) is a neurological emergency with high morbidity and mortality. Cenobamate, a novel antiseizure medication, may be helpful in managing SRSE, but evidence is limited. Methods This retrospective case series reports the use of cenobamate as add‐on therapy in the management of three cases of ...
Marina Romozzi, Juan Luis Alcala‐Zermeno, Antonio Funcis, Federico Tosto, Marta Piccioli, Luigi Francesco Iannone, Riccardo Maviglia, Masahito Katsuki, Yasuhiko Matsumori, Paolo Calabresi, Raffaele Iorio, Catello Vollono   +11 more
wiley   +1 more source

CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases

, 2023
Objective: The study was conducted to analyze the possible diagnostic value of the electroclinical semiology of the epileptic seizures. Methods: We evaluated the medical records of 17 females and 5 males with CDKL5 deficiency disorder (CDD) considering ...
Roberto Caraballo, Caraballo, Roberto Horacio, Manuela Monchelato, Darra, Francesca, Gabriela Reyes Valenzuela, Bernardo Dalla Bernardina, Francesca Darra, Monchelato, Manuela, Dalla Bernardina, Bernardo, Reyes Valenzuela, Gabriela, Matias Juanes, Juanes, Matías Hernan, Loos, Mariana, Mariana Loos, Gallo, Adolfo, Adolfo Gallo   +15 more
core   +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

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

, 2022
FZR1, which encodes the Cdh1 subunit of the anaphase-promoting complex, plays an important role in neurodevelopment by regulating the cell cycle and by its multiple post-mitotic functions in neurons.

core   +1 more source