Results 51 to 60 of about 2,367 (191)

Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy

Epilepsia, Volume 67, Issue 8, Page 4245-4254, August 2026.
Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann, Amanda Stuart, Navprabhjot Kaur, Samuel Wiebe, Nathalie Jette, Shaily Singh, Felippe Borlot, Susanne Knake, The Calgary Comprehensive Epilepsy Program Collaborators, Paolo Federico, Colin Josephson, William Murphy, Andrea Salmon, Guillermo Delgado Garcia, Walter Hader, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Technological and computational approaches to detect somatic mosaicism in epilepsy

Neurobiology of Disease, 2023
Lesional epilepsy is a common and severe disease commonly associated with malformations of cortical development, including focal cortical dysplasia and hemimegalencephaly.
Christian M. Boßelmann, Costin Leu, Dennis Lal   +2 more
doaj   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Fetal MRI in Prenatal Diagnosis of CNS Abnormalities

Pediatric Neurology Briefs, 2009
The value of fetal MRI (fMRI) compared to ultrasound in the prenatal detection of CNS abnormalities and impact on counseling were determined in 25 pregnant women examined at University of Dusseldorf, Germany.
J Gordon Millichap
doaj   +1 more source

Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management

MedComm, Volume 7, Issue 7, July 2026.
Epilepsy is a heterogeneous and chronically evolving brain network disorder. This review integrates epidemiological burden, psychiatric comorbidities, and cyclic seizure patterns with multiscale pathogenic mechanisms, including ion‐channel dysfunction, synaptic transmission defects, neuroinflammation, metabolic and mitochondrial dysfunction, and ...
Jian Liu, Xinyan Wu, Ting Yin, Feining Huang, Manqi Kong, Yu Yang, Zinan Liu, Jiabin Yu, Tianpeng Zhang   +8 more
wiley   +1 more source

Aberrant mid-sagittal fiber tracts visualized by diffusion tensor MR: A case report

, 2010
In hemimegalencephaly, MR imaging often reveals mid-sagittal band-like structures between the lateral ventricles. We describe the clinical presentation, morphologic abnormalities, conventional MR imaging, diffusion tensor MR and fiber tract (FT ...
Ventura E., Ormitti F., Summa A., Pisani F., Todeschini A., Cantalupo G.   +5 more
core   +3 more sources

Cognition in adults with bottom‐of‐sulcus dysplasia and the consequences of focal resection

Epilepsia, Volume 67, Issue 5, Page 2450-2462, May 2026.
Abstract Objective To determine whether there are cognitive consequences of bottom‐of‐sulcus dysplasia (BOSD) when assessed as adults and whether focal resection of these lesions leads to change in cognition. Methods We studied 42 adults, of whom 39 underwent focal resection targeting the lesion.
Carmen J. Zheng, David Weintrob, Marie O'Shea, Graeme D. Jackson, Chris Tailby   +4 more
wiley   +1 more source

Neurocutaneous melanocytosis, hemimegalencephaly and large ovarian cyst in a newborn

, 2015
We report a case of a newborn girl with neurocutaneous melanocytosis, hemimegalencephaly and a large ovarian cyst. She also had melanocyte deposition in the filum terminale.
Derinkuyu, BETÜL EMİNE, Ergenekon, Ebru, Unal, Sezin, Boyunaga, ÖZNUR LEMAN, UÇAR, MURAT   +4 more
core   +1 more source

Proteus syndrome with neurological manifestations: A rare presentation

Journal of Pediatric Neurosciences, 2017
Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups.
Pallavi Sachdeva, Priyanka Minocha, Rohit Jain, Sadasivan Sitaraman, Manisha Goyal   +4 more
doaj   +1 more source

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

Annals of Clinical and Translational Neurology, 2021
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain‐specific somatic Ras homolog enriched in ...
Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah E. M. Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer   +9 more
doaj   +1 more source