Results 31 to 40 of about 118,836 (248)

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus

Human Genome Variation, 2023
HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 variants ranges from neonatal developmental and epileptic encephalopathy to idiopathic generalized epilepsy.
Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto   +12 more
doaj   +1 more source

PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum

, 2021
Background and Objectives Purine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development.
Reijnders, M, Rouhl, RPW, Gardella, E, Wierenga, KJ, Coman, Dave J, Isidor, B, Bayat, A, Courtin, T, Gjerulfsen, CE, Buratti, J, Keren, B, Faivre, L, Piton, A, et al., Johannesen, KM, Whalen, S   +15 more
core   +1 more source

Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant

Epilepsia Open, 2021
Objective Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the KIF5A gene have been reported in the onset of various neurological diseases, there are no
Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto   +8 more
doaj   +1 more source

Simultaneous intracranial EEG and fMRI of interictal epileptic discharges in humans [PDF]

, 2011
Simultaneous scalp EEG–fMRI measurements allow the study of epileptic networks and more generally, of the coupling between neuronal activity and haemodynamic changes in the brain.
Walker, M.C., Lemieux, L., Rodionov, R., McEvoy, A.W., Matthew C. Walker, Karin Rosenkranz, Rosenkranz, K., Serge Vulliemoz, David W. Carmichael, Beate Diehl, Louis Lemieux, Carmichael, D.W., Diehl, B., Vulliemoz, S., Roman Rodionov, Andrew W. McEvoy   +15 more
core   +1 more source

Current understanding and neurobiology of epileptic encephalopathies

Neurobiology of Disease, 2016
Epileptic encephalopathies are a group of diseases in which epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.
Stéphane Auvin, Maria Roberta Cilio, Annamaria Vezzani   +2 more
doaj   +1 more source

Differentiation of ruminant transmissible spongiform encephalopathy isolate types, including bovine spongiform encephalopathy and CH1641 scrapie [PDF]

, 2010
With increased awareness of the diversity of transmissible spongiform encephalopathy (TSE) strains in the ruminant population, comes an appreciation of the need for improved methods of differential diagnosis. Exposure to bovine spongiform encephalopathy (
Bossers, A., A. Bossers, Y. Tang, Sauer, M., M. Sauer, L. J. M. van Keulen, J. P. M. Langeveld, J. G. Jacobs, Keulen, L.J.M., van, van Keulen, L.J.M., Tang, Y., Jacobs, J.G., Langeveld, J.P.M.   +12 more
core   +1 more source

Infection-Related Epileptic Encephalopathy

Pediatric Neurology Briefs, 2010
A multicenter retrospective case series of 22 children (16 male, 6 female) aged 3-15 years (median 6.5 yrs) with prolonged or recurrent seizures occurring 2-14 days (median 5 days) after a febrile respiratory (59%) or nonspecific infection is reported ...
J Gordon Millichap
doaj   +1 more source

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

Frontiers in Genetics, 2022
Febrile-associated epileptic encephalopathy is a large genetically heterogeneous group that is associated with pathogenic variants in SCN1A, PCDH19, SCN2A, SCN8A, and other genes.
Artem Sharkov, Artem Sharkov, Peter Sparber, Anna Stepanova, Denis Pyankov, Sergei Korostelev, Mikhail Skoblov   +6 more
doaj   +1 more source

Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation

Stem Cell Research, 2021
Early infantile epileptic encephalopathy 26 (EE26) is a form of epileptic encephalopathy, a heterogeneous group of severe childhood-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis.
Yufan Guo, Jianda Wang, ZhiLiang Wang, Yuting Lou, Wangyang Chen, Min Sheng, Ye Wang, Bijun Zhang, Liuyan Gao, Jianhua Feng   +9 more
doaj   +1 more source

The spectrum of SCNIA-related infantile epileptic encephalopathies

, 2007
The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.
Zuberi, S., Connolly, M., Farrell, K., Andermann, F., Gardner, A., Sutherland, G., Dibbens, L., Andermann, E., Batish, S., Harbord, M., Iona, X., Harkin, L., Seltzer, W., Pelekanos, J., Wang, J., Gill, D., Stanley, T., Jones, J., McMahon, J., et al., Sadleir, L.   +20 more
core   +1 more source