Results 161 to 170 of about 176,074 (266)

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, Carlotta Stipa, Elisa Mannini, Raffaella Minardi, Barbara Mostacci, Valentina Tontini, Tommaso Pippucci, Francesca Bisulli, Pamela Magini   +10 more
wiley   +1 more source

Hodgkin's Lymphoma Presenting With Nephrotic Syndrome and Complicated by Posterior Reversible Encephalopathy Syndrome in a Child: A Rare Multisystem Interaction. [PDF]

Clin Case Rep
Al-Shohef B, Nasser MH, Alhiraki H, Baqla S, Hamdan O, Hussein M.   +5 more
europepmc   +1 more source

Beyond pattern recognition: Why electroencephalography must answer clinical questions, not describe brain waves

Epilepsia, EarlyView.
Felix Benninger, Ilan Goldberg, Idit Tamir, Maayan Ben Nun Caller, Andrei Khrennikov, Oded Shor   +5 more
wiley   +1 more source

Semiology of functional/dissociative seizures in idiopathic generalized epilepsy: An inpatient video‐electroencephalographic study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to estimate the prevalence and characterize the semiology of co‐occurring functional/dissociative seizures (FDSs) and identify clinical features potentially associated with the development of video‐electroencephalography (video‐EEG)‐diagnosed FDSs in patients with idiopathic generalized epilepsy (IGE ...
Javier Peña‐Ceballos, Kishen Radhakrishna, Tenzin Choekyi, Clodagh O'Keeffe, Mohamed Ali, Alma O'Donnell, Tudor Munteanu, Patrick B. Moloney, Hany El Naggar, Gerard Mullins, Peter Widdess‐Walsh, Ronan D. Kilbride, Norman Delanty, Nuala McNicholas   +13 more
wiley   +1 more source

Ophthalmoplegia and gaze-evoked nystagmus in Wernicke encephalopathy. [PDF]

CMAJ
Abe A, Shirota S.
europepmc   +1 more source

Raising resilience: A parenting intervention for families affected by childhood epilepsy

Epilepsia, EarlyView.
Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman, Bianca C. Bondi, Chantal C. Cheung, Heather Olivieri, Tricia S. Williams   +4 more
wiley   +1 more source

Erratum: Kim et al., "GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of <i>STXBP1</i> Encephalopathy". [PDF]

J Neurosci
europepmc   +1 more source

Prolonged fenfluramine use in open‐label studies of Dravet or Lennox–Gastaut syndromes: Long‐term safety, tolerability, patient global functioning, and considerations for interpreting effectiveness

Epilepsia, EarlyView.
This graphical abstract provides an overview of the content from this open‐label extension study of fenfluramine use in patients with Dravet syndrome or Lennox‐Gastaut syndrome. Abstract Objective Long‐term safety and global functioning are reported in patients with Dravet syndrome (DS) or Lennox–Gastaut syndrome (LGS) treated with fenfluramine in an ...
Antonio Gil‐Nagel, Kelly G. Knupp, Boudewijn Gunning, Domenica Immacolata Battaglia, Elizabeth A. Thiele, Ingrid E. Scheffer, An‐Sofie Schoonjans, Rima Nabbout, Nathalie Villeneuve, Kerstin Alexandra Klotz, Nicola Specchio, Rocio Sanchez‐Carpintero, Marta Zolnowska, Anne‐Liv Schulz, Lily Perrin, Najla Dickson, Mélanie Langlois, Amélie Lothe, Joseph Sullivan   +18 more
wiley   +1 more source

Reversible Central Sleep Apnea in Acute Necrotizing Encephalopathy of Childhood: A Case Report. [PDF]

Cureus
Al Dhouyani B, Al-Naimi AR.
europepmc   +1 more source

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee, Sarah M. Ruggiero, Kristin Cunningham, JoeyLynn Coyne, Ian McSalley, Michael C. Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M. Orlando, Viveknarayanan Padmanabhan, Alexander K. Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A. Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie McCarthy, Jan H. Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao‐Tuan Chao, Katherine Xiong, Elizabeth Berry‐Kravis, Sepideh Tabarestani, J. Michael Graglia, Kathryn Helde, Virginie McNamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland, Samuel R. Pierce, Ingo Helbig   +38 more
wiley   +1 more source