Results 21 to 30 of about 15,708 (241)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

RARS1‐related developmental and epileptic encephalopathy

Epilepsia Open, 2023
Objective Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with central nervous system (CNS) manifestations, such as hypomyelinating leukodystrophy‐9 and developmental and epileptic ...
Lin Wan, Dan Yu, Zhichao Li, Xinting Liu, Yan Liang, Huimin Yan, Gang Zhu, Bo Zhang, Guang Yang   +8 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
core   +1 more source

Gene variations of glutamate metabolism pathway and epilepsy

Acta Epileptologica, 2022
Background Epilepsy is a paroxysmal disorder of the brain, caused by an imbalance of neuronal excitation and inhibition. Glutamate is the most important excitatory neurotransmitter in the brain and plays an important role in epileptogenesis. Mutations in
Yan Feng, Cuirong Zhang, Zihan Wei, Guoyan Li, Yajing Gan, Chao Liu, Yanchun Deng   +6 more
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
core   +2 more sources

STXBP1-Related Developmental and Epileptic Encephalopathy

Pediatric Neurology Briefs, 2019
Researchers from the University of Antwerp, Belgium, and numerous international collaborators report a comprehensive overview of the phenotypic and genetic spectrum of Syntaxin-binding protein 1 (STXBP1) encephalopathy.
Brittani Wild, Stephen Lewis Nelson
doaj   +1 more source

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy

Children, 2022
Tubulin proteins play a role in the cortical development. Mutations in the tubulin genes affect patients with brain malformations. The present report describes two cases of developmental and epileptic encephalopathy (DEE) due to tubulinopathy.
Kun-Long Hung, Jyh-Feng Lu, Da-Jyun Su, Su-Jin Hsu, Lee-Chin Wang   +4 more
doaj   +1 more source

A rare case of Yhwag gene mutation causing developmental and epileptic encephalopathy

, 2023
Background: epileptic encephalopathy 56 or DEE is a rare disease characterized by early-onset treatment-refractory epilepsy accompanied by global developmental regression that has been shown to be caused by various mutations of the YWHAG gene.
Rizea, R.E., Gheorghita, Karina Lidia, Ciurea, A.V.   +2 more
core   +1 more source

A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family

BMC Medical Genomics, 2022
Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of severe disorders that are characterized by early-onset, refractory seizures and developmental slowing or regression.
Zhi Yi, Zhenfeng Song, Jiao Xue, Chengqing Yang, Fei Li, Hua Pan, Xuan Feng, Ying Zhang, Hong Pan   +8 more
doaj   +1 more source

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations

Molecular Genetics & Genomic Medicine, 2022
Background The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous ...
Tangfeng Su, Yu Yan, Qingqing Hu, Yan Liu, Sanqing Xu   +4 more
doaj   +1 more source