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Epilepsy and paroxysmal conditions

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Vol 17, No 2 (2025) Severe KCNT1-related developmental and epileptic encephalopathy Abstract  similar documents
A. G. Malov, L. Yu. Brokhin, A. V. Veselkova
"... Developmental and epileptic encephalopathy (DEE) caused by a mutation in the KCNT1 gene (KCNT1-DEE ..."
 
Vol 13, No 3 (2021) Reiterating the role of corpus callosum in generalization of interictal and ictal epileptiform discharges: a case report with post-callosotomy intracranial electroencephalography in Lennox–Gastaut syndrome Abstract  PDF (Eng)  similar documents
S. Gopinath, A. Pillai, A. G. Diwan, J. V. Pattisapu, K. Radhakrishnan
"... Lennox–Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by delayed mental ..."
 
Vol 11, No 4 (2019) Significance of exome sequencing for diagnosis of epilepsy in children Abstract  similar documents
T. V. Kozhanova, S. S. Zhilina, T. I. Meshheryakova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko
 
Vol 15, No 3 (2023) SPTAN1-associated developmental and epileptic encephalopathy Abstract  similar documents
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
"... and epileptic encephalopathy 5 (ОMIM: 613477). The clinical history, electroencephalographic and magnetic ..."
 
Vol 11, No 1 (2019) Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case Abstract  similar documents
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko
"... with epileptic encephalopathy (NGS), we detected a nucleotide heterozygous variant of the ALDH7A1 gene ..."
 
Vol 12, No 1 (2020) Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder Abstract  similar documents
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko
"... ) in patients with epileptic encephalopathy, ASD, and characteristic phenotype, it is advisable to take ..."
 
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