Results 81 to 90 of about 118,836 (248)

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

Role of MRI in term newborn hypoxic-ischemic encephalopathy: correlation with motor outcome [PDF]

, 2012
Objectives: To correlate the site and severity of brain lesions seen on magnetic resonance imaging (MRI) with the general movements, Hammersmith scoring and motor outcome in term new-borns with ipoxic-ischemic encephalopathy.
PASQUARIELLO, ROSA
core  

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

Early infantile epileptic encephalopathy 3 - A rare disorder: Case report [PDF]

, 2022
Early infantile epileptic encephalopathy is a severe form of epileptic encephalopathies which is characterized by the onset of generalized or lateralized tonic spasms within 3 months of life.
Rohini Gulhane; Datta Meghe Medical College, Shalinitai Meghe Hospital, Wanadongri, Hingna, Nagpur
core  

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

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

Molecular Genetics and Metabolism Reports, 2019
We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene.
Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva   +11 more
doaj   +1 more source

Metabolic causes of epileptic encephalopathy [PDF]

, 2013
Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology.
Pearl, Phillip L., Yu, Joe Yuezhou
core  

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

Frontiers in Genetics, 2018
Mitochondrial Fission Factor (MFF) is part of a protein complex that promotes mitochondria and peroxisome fission. Hitherto, only 5 patients have been reported harboring mutations in MFF, all of them with the clinical features of a very early onset Leigh-
Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Daniele Ghezzi, Vincenzo Leuzzi   +8 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

A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathy

Maternal Health, Neonatology and Perinatology
Neonatal adenylosuccinate lyase (ADSL) deficiency is a rare neurodegenerative disorder that is associated with epileptic encephalopathy, diffuse hypotonia, and respiratory failure.
Keisha Wolfe, Laura Armstrong, Caroline Wambach, Eyby Leon, Katelinn Ohrtman, Ilana Miller, Tucker Pyle, Jason Schroeder, Jamie Fraser, Youssef Kousa   +9 more
doaj   +1 more source