Results 61 to 70 of about 1,556 (197)

Expanding the Phenotype of CYFIP2‐Related Developmental Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, Volume 3, Issue 4, Page 314-323, December 2025.
ABSTRACT Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated. Codon Arg87 is a de novo mutational hotspot associated with a severe DEE phenotype via gain‐of‐function mechanisms. Currently, there
Michaela Squire, Jenna K. Lea, Zheng (Jane) Fan, Senyene E. Hunter   +3 more
wiley   +1 more source

A practical guide to the updated seizure classification 2025

Epileptic Disorders, Volume 27, Issue 6, Page 1087-1104, December 2025.
Abstract This paper provides a practical guide to applying the updated seizure classification in clinical settings. The updated classification, published by the International League Against Epilepsy in 2025, builds on the operational classification introduced in 2017.
Sándor Beniczky, Eugen Trinka, Elaine Wirrell, Mamta Bhushan Singh, Hal Blumenfeld, Alicia Bogacz Fressola, Fernando Cendes, Dana Craiu, Birgit Frauscher, Floor E. Jansen, Philippe Kahane, Veena Kander, Nirmeen Kishk, Ching Soong Khoo, Angelica Lizcano, Luca De Palma, Philippe Ryvlin, Nicola Specchio, Michael R. Sperling, William Tatum, Elza Márcia Yacubian, Jo Wilmshurst, J. Helen Cross   +22 more
wiley   +1 more source

Neural correlates of laughter and humour [PDF]

, 2017
Although laughter and humour have been constituents of humanity for thousands if not millions of years, their systematic study has begun only recently.
Grodd, Wolfgang, Rodden, Frank A., Ruch, Willibald, Wild, Barbara   +3 more
core  

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Reply [PDF]

, 1983
No Abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/50305/1/410140420_ftp ...
Kandt, Raymond S.
core   +1 more source

Acquired narcolepsy secondary to a presumptive hypothalamic hamartoma in a young German wirehaired pointer dog

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract A 3‐year‐old, male, entire, German wirehaired pointer dog was presented with a 2‐year history of paroxysmal episodes of collapse associated with reduced levels of consciousness. A magnetic resonance imaging study identified a single, ill‐defined, non‐contrast‐enhancing, intra‐axial mass lesion involving the hypothalamus.
Callum Atkins, Tessa V. Procter, Tobias Schwarz, Megan Madden   +3 more
wiley   +1 more source

Predictors of cognitive function in patients with hypothalamic hamartoma following stereotactic radiofrequency thermocoagulation surgery [PDF]

, 2017
Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/138275/1/epi13838.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/138275/2/epi13838_am ...
Akazawa, Kohei, Asano, Eishi, Ito, Yosuke, Kameyama, Shigeki, Masuda, Hiroshi, Shirozu, Hiroshi, Sonoda, Masaki   +6 more
core   +1 more source

Three-dimensional neurorehabilitation: a different perspective [PDF]

, 2015
The authors have narrated their perspective on rehabilitation of neurological disabilities based upon their experiences in three different regions of the globe, hence the word three dimensional .
Mitchell Jenkins, Randolph, Zaheer Qureshi, Ahmad   +1 more
core   +1 more source

Distinct gray matter and metabolic characteristics in hypothalamic hamartoma network with different semiology

Epilepsia, Volume 66, Issue 8, Page 2853-2863, August 2025.
Abstract Objective Hypothalamic hamartomas (HHs) are developmental malformations associated with focal epilepsy. We investigated the patterns of gray matter morphology and cerebral metabolism in individuals with HHs, with and without focal to bilateral tonic–clonic seizures (FBTCSs), aiming to clarify the accompanying network abnormalities.
Yihe Wang, Tao Feng, Fenglai Xiao, Yanfeng Yang, Marine N. Fleury, Lawrence P. Binding, Davide Giampiccolo, Peter Taylor, Matthias J. Koepp, John S. Duncan, Penghu Wei, Yongzhi Shan, Guoguang Zhao   +12 more
wiley   +1 more source

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions [PDF]

, 2022
The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in
Zuberi, Sameer M, Wirrell, Elaine, Yozawitz, Elissa, Wilmshurst, Jo M, Specchio, Nicola, Riney, Kate, Pressler, Ronit, Auvin, Stephane, Samia, Pauline, Hirsch, Edouard, Galicchio, Santiago, Triki, Chahnez, Snead, O Carter, Wiebe, Samuel, Cross, J Helen, Tinuper, Paolo, Scheffer, Ingrid E, Perucca, Emilio, Moshé, Solomon L, Nabbout, Rima   +19 more
core   +3 more sources