Results 1 to 10 of about 13,761 (214)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM [PDF]

Annals of Clinical and Translational Neurology
Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and ...
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
doaj   +2 more sources

Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature

Children, 2022
Previous studies have suggested that the ACTL6B monoallelic variant is responsible for an autosomal dominant inherited intellectual developmental disorder with severe speech and ambulation deficits.
Xiaodi Han, Jie Deng, Chunhong Chen, Xiaohui Wang, Fang Fang, Hua Li, Jie Luo, Jie Wu   +7 more
doaj   +3 more sources

Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy. [PDF]

Epilepsia Open
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
d'Orsi G, Costantino U, Di Claudio MT, Ferro CP, Palumbo P, Benvenuto M, Copetti M, D'Agruma L, Carella M, Castori M, Palumbo O.   +10 more
europepmc   +2 more sources

Clinical and Genetic Spectrum of Encephalopathy in the Korean Pediatric Population [PDF]

Annals of Child Neurology, 2021
Purpose Syntaxin-binding protein 1 (STXBP1) mutations are known to result in various phenotypes including Ohtahara syndrome, West syndrome, and autism, collectively referred as STXBP1 encephalopathy.
Woo Joong Kim, Young Kyu Shim, Young Jun Ko, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae   +9 more
doaj   +1 more source

Preliminary Study About A Significant and Treatable Cause of Epileptic Encephalopathy: GRIN2D Mutation

Acta Medica Alanya, 2021
Aim: The GRIN2D gene mutation causes severe forms of epileptic encephalopathy. NMDAR antagonists and magnesium sulfate could be useful as adjunctive therapy to control seizures in individuals with GRIN2D encephalopathy.
Nadide Cemre Randa, Gültekin Kutluk
doaj   +1 more source

Solute carrier transporter disease and developmental and epileptic encephalopathy

Frontiers in Neurology, 2022
The International League Against Epilepsy officially revised its classification in 2017, which amended “epileptic encephalopathy” to “developmental and epileptic encephalopathy”. With the development of genetic testing technology, an increasing number of
Yajing Gan, Zihan Wei, Chao Liu, Guoyan Li, Yan Feng, Yanchun Deng, Yanchun Deng   +6 more
doaj   +1 more source

SPTAN1-associated developmental and epileptic encephalopathy

Эпилепсия и пароксизмальные состояния, 2023
The article presents the clinical cases of 6 patients with epilepsy, psychomotor and speech developmental delay. The heterozygous variants of the nucleotide sequence in SPTAN1 gene were detected by whole exome sequencing.
T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Lukyanova, E. S. Bolshakova, S. O. Ayvazyan, K. V. Osipova, P. A. Vlasov, A. I. Krapivkin, N. N. Zavadenko   +9 more
doaj   +1 more source

Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila [PDF]

Disease Models & Mechanisms
Robin A. Karge, Florian P. Fischer, Hannah Schüth, Aileen Wechner, Sabrina Peter, Lukas A. Kilo, Mato Dichter, Aaron Voigt, Gaia Tavosanis, Karen M. J. van Loo, Henner Koch, Yvonne G. Weber, Stefan Wolking   +12 more
doaj   +2 more sources

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

Molecular Genetics & Genomic Medicine, 2023
Background SYNJ1 encodes Synaptojanin‐1, a dual‐function poly‐phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics.
Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering   +10 more
doaj   +1 more source

Clinical features of developmental and epileptic encephalopathy caused by KCNQ2 gene mutation

Эпилепсия и пароксизмальные состояния, 2023
Current classification of epileptic syndromes proposed in 2022 by the International League Against Epilepsy, developmental and epileptic encephalopathy (DEE) caused by mutation in the KCNQ2 gene is identified as an independent nosological form ...
А. G. Malov, Т. P. Kalashnikova, N. А. Vdovina   +2 more
doaj   +1 more source