Results 161 to 170 of about 50,276 (321)

Focal cortical dysplasia

, 2016
female, 3 ...
openaire   +2 more sources

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Analysis of clinical characteristics and histopathological transcription in 40 patients afflicted by epilepsy stemming from focal cortical dysplasia

Epilepsia Open
Objective This study aims to comprehensively analyze the clinical characteristics and identify the differentially expressed genes associated with drug‐resistant epilepsy (DRE) in patients with focal cortical dysplasia (FCD).
Ke Zhang, He Yao, Jixue Yang, Tianming Jia, Qiao Shan, Dongming Li, Mengchun Li, Ling Gan, Xinjun Wang, Yan Dong   +9 more
doaj   +1 more source

Glymphatic dysfunction couples with cortical excitation–inhibition imbalance in epilepsy: Evidence from Rasmussen encephalitis

Epilepsia, EarlyView.
Cong Fu et al. demonstrate that glymphatic system dysfunction is linked to enhanced inhibitory cortical activity using diffusion MRI and EEG. These findings highlight a mechanistic link between perivascular fluid dynamics and neuronal activity, suggesting a role for glymphatic function in maintaining cortical stability in epilepsy.
Cong Fu, Yujiao Yang, Pan Gong, Kun Lv, Yilin Liu, Chongyang Tang, Xiongfei Wang, Lixin Cai, Qingzhu Liu, Yuwu Jiang, Taoyun Ji, Guoming Luan   +11 more
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

PERAN PEMERIKSAAN MRI DTI DAN MT DALAM MENDETEKSI SKLEROSIS HIPOKAMPUS PADA EPILEPSI LOBUS TEMPORALIS MESIAL INTRAKTABEL DENGAN MRI NORMAL [PDF]

, 2015
Latar belakang : Etiologi Epilepsi Lobus Temporal Mesial (ELTM) intraktabel tersering adalah sklerosis hipokampus. Sekitar 20-30% pasien epilepsi fokal intraktabel menunjukkan MRI standar normal.MRI DTI dan MT, mempunyai kemampuan menunjukkan substrat ...
SUKMANINGTYAS, Hermina
core  

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Cortical surface analysis for focal cortical dysplasia diagnosis by using PET images

Heliyon
Focal cortical dysplasia (FCD) is a neurological disorder distinguished by faulty brain cell structure and development. Repetitive and uncontrollable seizures may be linked to FCD's aberrant cortical thickness, gyrification, and sulcal depth ...
Eric Jacob Bacon, Chaoyang Jin, Dianning He, Shuaishuai Hu, Lanbo Wang, Han Li, Shouliang Qi   +6 more
doaj   +1 more source

AI‐based localization of the epileptogenic zone using intracranial EEG

Epilepsia Open, EarlyView.
Abstract Artificial intelligence (AI) is rapidly transforming our lives. Machine learning (ML) enables computers to learn from data and make decisions without explicit instructions. Deep learning (DL), a subset of ML, uses multiple layers of neural networks to recognize complex patterns in large datasets through end‐to‐end learning.
Atsuro Daida, Yipeng Zhang, Sotaro Kanai, Richard Staba, Vwani Roychowdhury, Hiroki Nariai   +5 more
wiley   +1 more source