Results 11 to 20 of about 15,708 (241)

Research progress on developmental and epileptic encephalopathy [PDF]

精准医学杂志
Developmental and epileptic encephalopathy (DEE) is a group of heterogeneous disorders characterized by drug-resistant seizures and neurodevelopmental delay, which can hinder brain development and lead to severe cognitive, behavioral, and motor ...
NIU Xueyang, ZHANG Yuehua
doaj   +3 more sources

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy

Epilepsia Open
Objective To develop a high‐throughput sequencing panel for the diagnosis of developmental and epileptic encephalopathy in Tunisia and to clarify the frequency of disease‐causing genes in this region.
Mariem Ben Said, Olfa Jallouli, Abir Ben Aissa, Amal Souissi, Fatma Kamoun, Faiza Fakhfakh, Saber Masmoudi, Ikhlas Ben Ayed, Chahnez Charfi Triki   +8 more
doaj   +2 more sources

Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report

BMC Pediatrics
Background Vitamin B12 deficiency is a recognised cause of neurological manifestations, including peripheral neuropathy, behavioural changes, and seizures.
PKBUC Bandara, Wasana Wijenayake, Sanjaya Fernando, Padmapani Padeniya, Sachith Mettananda   +4 more
doaj   +2 more sources

SCN1B‐linked early infantile developmental and epileptic encephalopathy

Annals of Clinical and Translational Neurology, 2019
Objective Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage‐gated sodium channel (VGSC) β1 and β1B non‐pore‐forming subunits.
Alec Aeby, Claudine Sculier, Alexandra A. Bouza, Brandon Askar, Damien Lederer, Anne‐Sofie Schoonjans, Marc Vander Ghinst, Berten Ceulemans, James Offord, Luis F. Lopez‐Santiago, Lori L. Isom   +10 more
doaj   +2 more sources

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

Annals of Clinical and Translational Neurology, 2019
Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the ...
Martin Krenn, Alexej Knaus, Dominik S. Westphal, Saskia B. Wortmann, Tilman Polster, Friedrich G. Woermann, Michael Karenfort, Ertan Mayatepek, Thomas Meitinger, Matias Wagner, Felix Distelmaier   +10 more
doaj   +2 more sources

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation [PDF]

Frontiers in Genetics
WWOX developmental and epileptic encephalopathy is characterised by drug-resistant epilepsy with onset within the first year of life and severe psychomotor developmental delay.
Anna Teplyshova, Artem Sharkov, Artem Sharkov, Artem Sharkov   +3 more
doaj   +2 more sources

How Encephalopathy Impacts Language Ability: A Scoping Review of the Linguistic Abilities of Adults with Developmental and Epileptic Encephalopathy

Medicina
Background and Objectives: Developmental and epileptic encephalopathy refers to a group of conditions where patients experience abnormal development due to various causes as well as frequent epileptiform discharges that ultimately contribute, in an ...
Ioanna Papatheodorou, Stavroula Stavrakaki, Vasiliki Koukoulioti, Martha Spilioti, Vasileios Kimiskidis   +4 more
doaj   +2 more sources

Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. [PDF]

, 2022
We report on an 8-year-old girl with severe developmental and epileptic encephalopathy due to the compound heterozygous null variants p.(Gln661*) and p.(Leu830Profs*2) in GRIN2A resulting in a knockout of the human GluN2A subunit of the N-methyl-D ...
Gallati, Sabrina, Claudine Rieubland, Myers, Scott J, Sabina Gallati, Rieubland, Claudine, Scott J. Myers, Teuscher, Daniel D, Strehlow, Vincent, Kim, Sukhan, Daniel D. Teuscher, Ramsey, Amy J, Vincent Peterson, Johannes R. Lemke, Traynelis, Stephen F, Vincent Strehlow, Amy J. Ramsey, Stephen F. Traynelis, Lemke, Johannes R, Sukhan Kim, Peterson, Vincent   +19 more
core   +2 more sources

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy [PDF]

, 2020
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting ...
Handal, N. (Nader), Mathuru, A.S. (Ajay S.), Awaji, A. (Ali), Venkatesh, B. (Byrappa), Tohari, S. (Sumanty), Alkuraya, F.S. (Fowzan S), Tamim, A.M. (Abdullah M.), Ng, A.Y.J. (Alvin Yu Jin), Lim, J.Y. (Jiin Ying), Willemsen, M.A. (Michél), Kraegeloh-Mann, I. (Ingeborg), Simpson, M.A. (Melanie A.), Haye, D. (Damien), Lebigot, É. (Élise), Muriello, M.J. (Michael J.), Mor-Shaked, H. (Hagar), Stewart, J.C. (James C.), Rieß, A. (Angelika), Pierson, T.M. (Tyler Mark), Abdulrahim, M.M. (Maha M.), Pouladi, M.A. (Mahmoud A.), Gulsuner, S. (Suleyman), Li, H. (Hankun), Eio, M.Y. (Michelle Y.), Hengel, H. (Holger), Andrews, M.V. (Marisa V.), Hashem, M.O. (Mais O.), Aldhalaan, H.M. (Hesham M.), Bosso-Lefèvre, C. (Célia), Weckhuysen, S. (Sarah), Maddirevula, S. (Sateesh), Faqeih, E.A. (Eissa A.), AlSayed, M.D. (Moeenaldeen D.), Narayanan, G. (Gunaseelan), Slegtenhorst, M.A. (Marjon) van, Bonnard, C. (Carine), Lefeber, D.J. (Dirk J.), Grady, G. (George), Mahmoud, A.A.H. (Adel A. H.), Pfundt, R. (Rolph), Keren, B. (Boris), Barycki, J.J. (Joseph J.), Pierce, S. (Sarah), Szenker-Ravi, E. (Emmanuelle), Mitchell, W.G. (Wendy G.), Asmari, A.A. (Ali Al), Barakat, T.S. (Tahsin Stefan), Algain, S.M. (Sulwan M.), Mahida, S. (Sonal), Thomas, T.G. (Terrence G.), Stamberger, H. (Hannah), Bauer, P. (Peter), Marzouqa, H.M. (Hiyam M.), Schüle, R. (Rebecca), Willing, M.C. (Marcia C.), Helbig, I. (Ingo), Jad, L.A. (Lamyaa A.), Tang, S. (Sha), Tan, E.S. (Ee Shien), Begtrup, A. (Amber), Rodan, L.H. (Lance H.), Naidu, S. (Sakkubai), Klee, E.W. (Eric W.), Jamuar, S.S. (Saumya S.), Al-Owain, M. (Mohammed), Tartaglia, M. (Marco), Tan, T.-T. (Thong-Teck), Reversade, B. (Bruno), Verhelst, H. (H.), Schöls, L. (Ludger), Barresi, S. (Sabina), Telegrafi, A. (Aida), Gilboa, T. (Tal), Koolen, D.A. (David), Deigendesch, W. (Werner), Keimer, R. (Reinhard), Gunay-Aygun, M. (Meral), Oegema, R. (Renske), Utami, K.H. (Kagistia Hana), Yau, M. (Monica), Schultz-Rogers, L.E. (Laura E.), Martinelli, D. (Diego), Claridge-Chang, A. (Adam), Gavrilova, R.H. (Ralitza H.), Ciruna, B. (Brian)   +84 more
core   +5 more sources

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