Results 31 to 40 of about 3,423 (221)

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
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Early transient dysautonomia predicts the risk of infantile epileptic spasm syndrome onset: A prospective cohort study

Frontiers in Neurology, 2022
BackgroundInfantile epileptic spasm syndrome (IESS) is an age-dependent epileptic encephalopathy with a significant risk of developmental regression. This study investigates the association between heart rate variability (HRV) in infants at risk of IESS ...
Ipsita Goswami, Bryan Maguire, Vann Chau, Vann Chau, Emily W. Tam, Emily W. Tam, Elana Pinchefsky, Robyn Whitney, Diane Wilson, Steven P. Miller, Steven P. Miller, Miguel A. Cortez, Miguel A. Cortez   +12 more
doaj   +1 more source

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
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Interrater reliability in visual identification of interictal high-frequency oscillations on electrocorticography and scalp EEG. [PDF]

, 2018
High-frequency oscillations (HFOs), including ripples (Rs) and fast ripples (FRs), are promising biomarkers of epileptogenesis, but their clinical utility is limited by the lack of a standardized approach to identification.
Bernardo, Danilo, Fallah, Aria, Hussain, Shaun A, Nariai, Hiroki, Sankar, Raman, Wu, Joyce Y   +5 more
core   +1 more source

The mystery of the Doctor's son, or the riddle of West syndrome. [PDF]

, 2002
Although the eponym "West syndrome" is used widely for infantile spasms, the originators of the term and the time frame of its initial use are not well known. This article provides historical details about Dr. West, about his son who had infantile spasms,
Baram, Tallie Z, Eling, Paul, Pomper, Joern, Renier, Willy O   +3 more
core   +6 more sources

Infantile spasms and developmental delay: A case of miller–Dieker syndrome

Indian Pediatrics Case Reports, 2023
Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms.
Jewel Maria George, Carol Sara Cherian, Reji Thomas, Sebin Sunnychan   +3 more
doaj   +1 more source

WEST SYNDROME REVISITED

Эпилепсия и пароксизмальные состояния, 2017
West syndrome is an epileptic syndrome, characterized by a triad of symptoms: infantile spasms, hypsarrhythmia on interictal EEG, and a regression or delay of psycho-motoric development.
T. G. Okhapkina, Z. K. Gorchanova, I. V. Shulyakova, E. S. Ilyina, E. S. Michurina, E. D. Belousova   +5 more
doaj   +1 more source

Epileptic Spasms in Congenital Disorders of Glycosylation [PDF]

, 2017
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and ...
Bahi-Buisson, N, Barnerias, C, Boddaert, N, de Lonlay, P, Eisermann, M, Kaminska, A, Nabbout, R, Pereira, AG   +7 more
core   +1 more source

Clinical Features and Treatment Efficacy in Mutation-Related Epileptic Encephalopathy in the Infant [PDF]

Annals of Child Neurology, 2019
Purpose Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with epileptic encephalopathy and severe cognitive impairment. We aim to characterize the association between this gene and treatment efficacy. Methods We retrospectively
Chung Mo Koo, Se Hee Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang   +6 more
doaj   +1 more source

Treatment of infantile spasms: emerging insights from clinical and basic science perspectives. [PDF]

, 2011
Infantile spasms is an epileptic encephalopathy of early infancy with specific clinical and electroencephalographic (EEG) features, limited treatment options, and a poor prognosis.
Arnason, Barry GW, Baram, Tallie Z, Catania, Anna, Cortez, Miguel A, Glauser, Tracy A, Pranzatelli, Michael R, Riikonen, Raili, Rogawski, Michael A, Shinnar, Shlomo, Stafstrom, Carl E, Swann, John W   +10 more
core   +2 more sources