Results 141 to 150 of about 98,574 (255)

Finding My Path: Listening, Learning, and Leading in Rare Disease: The 2025 Hower Award

Annals of the Child Neurology Society, EarlyView.
Andrea Gropman
wiley   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Correction: Human milk microbiome as a modulator of the early-life gut-brain axis: mechanisms and translational opportunities for neurodevelopment. [PDF]

J Transl Med
Alnuaimi F, Yassin LK, Alketbi S, Skrabulyte-Barbulescu J, Almazrouei S, Alremeithi D, Alahbabi N, Almarzooqi S, Alkuwaiti SH, Hamad MIK.   +9 more
europepmc   +1 more source

Introducing the D‐DAND scale: Development of a comprehensive caregiver‐administered tool for Dravet syndrome comorbidities

Epilepsia, EarlyView.
Graphical overview of the Dravet Disease–Associated Neuropsychiatric Disorders (D‐DAND) scale. The D‐DAND scale provides a caregiver‐based, comprehensive assessment of developmental and behavioral comorbidities in Dravet syndrome across six domains: motor abilities, language and social interaction, autonomies, academic skills, emotional/behavioral ...
Bernardo Dalla Bernardina, Francesca Offredi, Alessio Toraldo, Lisa Ouss, Delphine Breuillard, Mathilde Cozzo, Tommaso Lo Barco, Isabella Brambilla, Francesca Darra, Rima Nabbout   +9 more
wiley   +1 more source

Perils and progress in epilepsy surgery utilization: Twenty‐five years later

Epilepsia, EarlyView.
Abstract More than 25 years have passed since the first randomized controlled trial (RCT) established that surgery is superior to continued anti‐seizure medication (ASM) for drug‐resistant temporal lobe epilepsy, and nearly as long since a joint practice parameter urged that appropriate surgical candidates be referred to a specialized center for ...
Dario J. Englot
wiley   +1 more source

Automated segmentation of postsurgical resection cavities on magnetic resonance imaging in focal epilepsy: A Multicentre Epilepsy Lesion Detection study

Epilepsia, EarlyView.
Abstract Objective Quantitative assessment of extent of tissue resection following epilepsy surgery requires accurate delineation of the resection cavity on postoperative magnetic resonance imaging (MRI). Current methods for resection cavity masking are time‐consuming and labor‐intensive, and existing automated approaches exhibit variable segmentation ...
Jieun Seo, Mathilde Ripart, Helene Kaas, Cornelius Kronlage, Ben Sinclair, Lucy Vivash, Merran R. Courtney, Terence J. O'Brien, Siby Gopinath, Harilal Parasuram, Sedat Kandemirli, Natally Alarab, Lillian Lai, Marcus Likeman, Kai Zhang, Jiajie Mo, Georgian Ciobotaru, James Galea, Philip Sequeiros‐Peggs, Khalid Hamandi, Hua Xie, Venkata Sita Priyanka Illapani, William D. Gaillard, Nathan T. Cohen, Alexander G. Weil, Florence Henrichon‐Goulet, Kenza S. Lahlou, Aristides Hadjinicolaou, Agustín Ibáñez, Gonzalo M. Rojas‐Costa, Horst Urbach, Lara Bücheler, Marcel Heers, Adrián Valls Carbó, Rafael Toledano, Giulia Nobile, Costanza Parodi, Domenico Tortora, Alessandro Consales, Antonella Riva, Mariasavina Severino, Martin Tisdall, Felice D'Arco, Kshitij Mankad, Aswin Chari, Maria H. Eriksson, Rory J. Piper, J. Helen Cross, Torsten Baldeweg, Sofia González‐Ortiz, Jose Pariente, Nuria Bargalló, Yawu Liu, Reetta Kälviäinen, Carmen Barba, Matteo Lenge, Renzo Guerrini, Masaki Iwasaki, Daichi Sone, Hiroyuki Maki, Tomoki Imokawa, Noriko Sato, Julien Jung, Francisco Sepulveda, Daniel Mansilla, Andres Goycoolea, Ingeborg Lopez, Antonio Napolitano, Alessandro De Benedictis, Luca De Palma, Maria Camilla Rossi‐Espagnet, Nikolaos Kondylidis, Kostakis Gkiatis, Kyriakos Garganis, Joshua Pepper, Stefano Seri, John S. Duncan, Clarissa L. Yasuda, Lucas Scárdua‐Silva, Marina K. M. Alvim, Fernando Cendes, Antonio G. Gennari, Ruth O'Gorman Tuura, Georgia Ramantani, Mariam Josyula, Joel Stein, Nishant Sinha, Kate Davis, R. Edward Hogan, Luigi Maccotta, Sophie Adler, Konrad Wagstyl   +91 more
wiley   +1 more source

How should etiology change the classification of the epilepsies? Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract The classification of the epilepsies has traditionally relied on clinical and electroencephalographic features. However, advancements in molecular genetics, neuroimaging, and our understanding of epilepsy pathophysiology necessitate a shift toward an etiology‐based approach.
Nicola Specchio, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Ingrid E. Scheffer   +15 more
wiley   +1 more source

Neurodevelopment in Children Exposed to Antenatal CMV Viremia in a High HIV Prevalence Area. [PDF]

J Infect Dis
Evans C, Chandna J, Mutasa K, Rukobo S, Govha M, Mushayanembwa P, Chasekwa B, Majo FD, Kandawasvika G, Mutasa B, Tavengwa NV, Ntozini R, Humphrey JH, Gladstone MJ, Prendergast AJ.   +14 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic frontotemporal degeneration across the lifespan? A critical appraisal of the neurodevelopmental hypothesis. [PDF]

Alzheimers Dement
So I, Birkle TJY, Duff KE, Restrepo-Martinez M, Ducharme S, Finger EC.   +5 more
europepmc   +1 more source