Results 21 to 30 of about 118,836 (248)

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

KCNQ2 Encephalopathy Showing a Distinct Ictal Amplitude-Integrated Electroencephalographic Pattern [PDF]

Neonatal Medicine, 2020
KCNQ2 mutations induce a neonatal-onset epileptic encephalopathy of widely varying severity, ranging from benign familial neonatal epilepsy to severe refractory epileptic encephalopathy.
Naeun Kwak, Yun Jeong Lee, Dongsub Kim, Su-Kyeong Hwang, Soonhak Kwon, Eun Joo Lee   +5 more
doaj   +1 more source

CHD2 variants are a risk factor for photosensitivity in epilepsy. [PDF]

, 2015
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2
Cantonetti, L., Muhle, H., Thiele, H., Lench, N, Krishna Chinthapalli, V, Krause, R, Sadleir, L. G., Gaudio, L.D., Moller, R. S., EURO Epinomics CoGIE Consortium, Afrikanova, T, Jocic-Jakubi, B., Capovilla, G., Myers, C., Myers, C. T., Sadleir, LG, Muhle, H, Nürnberg, P, Helbig, I., Parisi, P., EuroEPINOMICS CoGIE Consortium,, Pendziwiat, M., Stephani, U., Coppola, A., Kasteleijn-Nolst Trenité, D.G.A., Myers, CT, Chinthapalli, V. K., Krishna Chinthapalli, V., Stephani, U, Del Gaudio, L., de Kovel, C.G.F., Scheffer, I.E., De Kovel, CGF, Chinthapalli, VK, Veggiotti, P., Lehesjoki, AE, Jacmin, M., Drury, S., Piccioli, M., Berkovic, S. F., Esguerra, C., Trenite, D., Martins, T.G., Chinthapalli, V., Thiele, H, Kasteleijn-Nolst Trenité, DG, Lehesjoki, A., Crawford, A., Boustred, C., Lerche, H, Moller, R., Galizia, E. C., Ruppert, A. -K., Helbig, I, Schubert, J, Schneider, A. L., Mefford, H.C., Crawford, AD, Schubert, J., Schneider, A.L., Veggotti, P, Esguerra, CV, Striano, S., Ruppert, A., Berkovic, S., Galizia, EC, Cordero-Maldonado, M., Leu, C., Mefford, H. C., Martins, T. G., Palotie, A, Crawford, A. D., Ruppert, A.K., Covanis, A., Sisodiya, S., Ruppert, AK, Cordero-Maldonado, M. L., Møller, RS, Esguerra, C. V., Trenité, D. G. A. K. -N., Schneider, A., Coppola, A, Cantonetti, L, Leu, C, Del Gaudio, L, Cordero-Maldonado, ML, De Kovel, C. G. F., Berkovic, SF, Mullen, S. A., Trenité, DGAKN, Martins, T., Koeleman, BPC, Jacmin, M, Covanis, A, Boustred, C, Moller, RS, Martins, TG, Sisodiya, SM, Koeleman, B., Sander, T, Mullen, S.A., Sander, T., Nürnberg, P., Lehesjoki, A.E., Berkovic, S.F, Sisodiya, S.M., Mullen, SA, Cordero-Maldonado, M.L., Sadleir, L.G., Palotie, A., Pendziwiat, M, Parisi, P, Capovilla, G, Scheffer, I., Koeleman, BP, Gaudio, LD, Lerche, H., Mullen, S., Veggiotti, P, Myers, C.T., Scheffer, I. E., Koeleman, B. P. C., De Kovel, C., Piccioli, M, Esguerra, C.V., Sisodiya, S. M., Lehesjoki, A. -E., Afrikanova, T., de Kovel, CG, Mefford, HC, Koeleman, B.P.C., Drury, S, Scheffer, IE, Galizia, E.C., Schneider, AL, Mefford, H., Møller, R.S., Krause, R., Galizia, E., Crawford, A.D., Striano, S, Jocic-Jakubi, B, Lench, N., Sadleir, L.   +143 more
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Frequently Identified Genetic Developmental and Epileptic Encephalopathy: A Review Focusing on Precision Medicine [PDF]

Annals of Child Neurology, 2019
In this article, we reviewed current knowledge regarding gene-specific therapies for some developmental and epileptic encephalopathy caused by genes with high diagnostic yields, and which are therefore, also more frequently encountered by physicians ...
Ara Ko, Hoon-Chul Kang
doaj   +1 more source

Dynamic imaging of coherent sources reveals different network connectivity underlying the generation and perpetuation of epileptic seizures [PDF]

, 2013
The concept of focal epilepsies includes a seizure origin in brain regions with hyper synchronous activity (epileptogenic zone and seizure onset zone) and a complex epileptic network of different brain areas involved in the generation, propagation, and ...
Raethjen, Jan, Günther Deuschl, Elshoff, Lydia, Lydia Elshoff, Abdul Rauf Anwar (475525), Stephani, Ulrich, Michael Siniatchkin, Abdul Rauf Anwar, Muthuraman Muthuraman (328846), Michael Siniatchkin (475526), Deuschl, Günther, Ulrich Stephani, Muthuraman Muthuraman, Günther Deuschl (58204), Jan Raethjen, Muthuraman, Muthuraman, Siniatchkin, Michael, Lydia Elshoff (475524), Ulrich Stephani (364671), Jan Raethjen (328852), Anwar, Abdul Rauf   +20 more
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Intravenous methylprednisolone pulse therapy for children with epileptic encephalopathy [PDF]

, 2015
The aim of this retrospective study of children affected by epileptic encephalopathy was to evaluate seizure frequency, electroencephalographic pattern and neuropsychological status, before and after intravenous methylprednisolone therapy.
G. Randazzo, Dontin, Serena Donetti, S. Masnada, M.C. Pera, P. Veggiotti, S. Donetti Dontin, V. De Giorgis, DE GIORGIS, VALENTINA, VEGGIOTTI, PIERANGELO, U. Balottin, BALOTTIN, UMBERTO, Donetti Dontin, Serena, PERA, MARIA CARMELA, RANDAZZO, GIOVANNA, MASNADA, SILVIA   +14 more
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Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description [PDF]

, 2023
The diagnosis of early infantile epileptic encephalopathy (EIEE) remains challenging, and next-generation sequencing (NGS) techniques have played a key role in identifying genetic causes.
Gomes, Rita, Da Silva Cardoso, Juliana, Falcão Reis, Cáudia, Parente Freixo, João, Abreu, Maria, Garrido, Cristina   +5 more
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Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation

Frontiers in Pharmacology, 2019
Epileptic encephalopathy, caused by mutations in the dynamin-1 (DNM1; NM_004408) gene, is a newly identified neurologic disorder in children. Thus far, the full clinical and electroencephalographic features of children with DNM1 mutation-related ...
Hua Li, Fang Fang, Manting Xu, Zhimei Liu, Ji Zhou, Xiaohui Wang, Xiaofei Wang, Tongli Han   +7 more
doaj   +1 more source

Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review

Molecular Genetics & Genomic Medicine, 2022
Background Typical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early neonatal‐onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first‐line ...
Jun Chen, Qiuji Tao, Lijuan Fan, Yajun Shen, Jinfeng Liu, Huan Luo, Zuozhen Yang, Mengmeng Liang, Jing Gan   +8 more
doaj   +1 more source

Dravet syndrome as epileptic encephalopathy: Evidence from long-term course and neuropathology [PDF]

, 2011
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known.
Liu, J.Y.W., Catarino, C.B., Scheffer, I.E., Davis, M.B., McMahon, J.M., Sisodiya, S.M., Liagkouras, I., Bellows, S.T., Woodward, C., Koepp, M.J., Yendle, S.C., Zuberi, S.M., Gibbons, V.S., Labrum, R.W., Thom, M., Martinian, L., Appleton, R.E., Jacques, T.S., Cross, J.H., Ellis, R., Smith, S.J.   +20 more
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