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Genetic aspects subtopic

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1-58 out of 58 article(s)
Title Author Type Date Words
Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation. Yucel, Husniye; Sel, Cigdem Genc; Kasapkara, Cigdem Seher; Kucukali, Gulin Karacan; Savas-Erdeve, Se Clinical report Mar 1, 2021 2829
The Association of OTX1 rs17850223 Polymorphisms in Han Chinese Patients with Idiopathic Epilepsy. Lv, Jin; Qu, Chunsheng; Huang, Zhenqiang; Zhu, Yingbiao; Wang, Wei; Lan, Likang Mar 31, 2020 2923
Apoptotic Markers Are Increased in Epilepsy Patients: A Relation with Manganese Superoxide Dismutase Ala16Val Polymorphism and Seizure Type through IL-1[beta] and IL-6 Pathways. Kegler, Aline; Caprara, Ana Leticia Fornari; Pascotini, Eduardo Tanuri; Arend, Josi; Gabbi, Patricia Mar 31, 2020 6217
Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy. Lu, Yuan; Su, Quanping; Li, Ming; Dayimu, Alimu; Dai, Xiaoyu; Wang, Zhiheng; Che, Fengyuan; Xue, Fuz Mar 31, 2020 5673
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20. Correa, Thiago; Venancio, Amanda Cristina; Galera, Marcial Francis; Riegel, Mariluce Mar 1, 2020 4248
Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. Mehdi, Krami Al; Fouad, Benhnini; Zouhair, Elkarhat; Boutaina, Belkady; Yassine, Naasse; Chaimaa, Ai Report Jan 1, 2020 7188
Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. Hettiarachchi, D.; Pathirana, B.A.P.S.; Kumarasiri, P.J.; Dissanayake, V.H.W. Nov 30, 2019 2665
Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy/Zeka Geriligi ve Epilepsisi Olan Cocuklarda Kalitsal Metabolik Hastalik Taramasi. Ustkoyuncu, Pembe Soylu; Guven, Ahmet Sami; Poyrazoglu, Hatice Gamze; Gokay, Songul; Kardas, Fatih; Sep 1, 2019 3064
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report. Candelo, Estephania; Ramirez-Montano, Diana; Pachajoa, Harry Report Jul 1, 2019 3503
Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey. Sayan, Saadet; Kotan, Dilcan; Gundogdu-Eken, Asli; Sahbaz, Irmak; Kocoglu, Cemile; Basak, A. Nazli Clinical report Jun 1, 2019 2982
Evaluation of Behavior, Learning, Memory Along with Apoptosis, Neuronal Damage, and GABA-A Alpha-1 Receptor Level After Status Epilepticus in Immature and Mature Rats/Immatur ve Matur Sicanlarda Status Epileptikus Sonrasi Apoptoz, Noronal Hasar, GABA-A Alfa-1 Reseptor Miktari ile Davranis, Ogrenme ve Hafizanin Degerlendirilmesi. Sonmez, Ali; Gol, Mehmet Fatih; Erdogan, Fusun Ferda; Liman, Narin; Sonmez, Ayse Dec 1, 2018 7117
ASSOCIATION ANALYSIS OF [gamma]2 SUBUNIT OF [gamma]-AMINOBUTYRIC ACID TYPE- A RECEPTOR (GABRG2) AND LEUCINE-RICH GLIOMA-INACTIVATED 4 GENE (LGI-4) POLYMORPHISMS WITH IDIOPATHIC EPILEPSIES AND FEBRILE SEIZURES. Gupta, Gaurav; Kumar, Navneet; Chandra, Rakesh Report Sep 24, 2018 2191
Association of the SLC6A4 gene 5HTTLPR polymorphism and ADHD with epilepsy, gestational diabetes, and parental substance abuse in Mexican mestizo children. Duran-Gonzalez, Jorge; Leal-Ugarte, Evelia; Cruz-Alcala, Leonardo Eleazar; Gutierrez-Angulo, Melva; Sep 1, 2018 3068
Role of non-coding RNAs in non-aging-related neurological disorders. Vieira, A.S.; Dogini, D.B.; Lopes-Cendes, I. Report Aug 1, 2018 6583
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy. Yesil, Gozde; Aralasmak, Ayse; Akyiiz, Enes; Icagasioglu, Dilara; Sahin, Turkan Uygur; Bayram, Yavuz Report Aug 1, 2018 1738
Modifiable Midlife Risk Factors Linked to Late-Onset Epilepsy; Baseline hypertension, diabetes, smoking, apolipoprotein E ?4 genotype linked to increased risk. Jul 25, 2018 250
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. He, Jin; Lin, Han; Li, Jin-Jing; Su, Hui-Zhen; Wang, Dan-Ni; Lin, Yu; Wang, Ning; Chen, Wan-Jin Report Jul 5, 2018 4474
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation. Evliyaoglu, Olcay; Ercan, Oya; Ataoglu, Emel; Zubarioglu, Umit; Ozcabi, Bahar; Dagdeviren, Aydilek; Report Jun 1, 2018 5005
Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients. Su, Chang; Liang, Xue-Jun; Li, Wen-Jing; Wu, Di; Liu, Min; Cao, Bing-Yan; Chen, Jia-Jia; Qin, Miao; Report Jan 1, 2018 4166
Filamin A Gene Associated Periventricular Nodular Heterotopia and Epilepsy in a Cohort of Chinese Patients. Liu, Wen-Yu; Zhou, Dong Oct 20, 2017 1162
Hyperinsulinemic Hypoglycemia Due to Homozygous C.706 C>T ( P. R236X) Mutation in 3 Siblings: Presentation with Resistant Epilepsy. Cayir, Atilla; Franco, Elisa De; Gullu, Ufuk Utku; Flanagan, Sarah E.; Ellard, Sian; Demirbilek, Hus Report Jun 1, 2017 350
More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome. Algahtani, Hussein; Ibrahim, Bashair; Shirah, Bader; Aldarmahi, Ahmad; Abdullah, Ahad Case study Jan 1, 2017 2314
Identifying and Analyzing Novel Epilepsy-Related Genes Using Random Walk with Restart Algorithm. Guo, Wei; Shang, Dong-Mei; Cao, Jing-Hui; Feng, Kaiyan; He, Yi-Chun; Jiang, Yang; Wang, ShaoPeng; Ga Report Jan 1, 2017 10621
Association between NLPR1, NLPR3, and P2X7R Gene Polymorphisms with Partial Seizures. Wang, Haidong; Xu, Pengfei; Liao, Dehua; Dang, Ruili; He, Xin; Guo, Yujin; Jiang, Pei Report Jan 1, 2017 4426
Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus. Salari, Mehri; Lehn, Alexander C.; Etemadifar, Masoud; Hejazi, Seyed Amir Report Jan 1, 2017 1148
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. Feichtinger, Rene G.; Brunner-Krainz, Michaela; Alhaddad, Bader; Wortmann, Saskia B.; Kovacs-Nagy, R Jan 1, 2017 6526
Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients. Sarajlija, Adrijan; Milenkovic, Tatjana; Djordjevic, Maja; Mitrovic, Katarina; Todorovic, Sladjana; Report Jun 1, 2016 3125
High-frequency Oscillations and the Seizure Onset Zones in Neocortical Epilepsy. Sun, Yan-Ping; Wang, Yu-Ping; Wang, Zhi-Hong; Wu, Feng-Yu; Tang, Li-Ou; Zhang, Shou-Wen; Pei, Hai-Ta Report Jul 5, 2015 2259
Gene expression profile analysis in epilepsy by using the partial least squares method. Wang, Dong; Song, Xixiao; Wang, Yan; Li, Xia; Jia, Shanshan; Wang, Zhijing Report Jan 1, 2014 2418
Cause of severe seizures in children. Oct 1, 2013 319
Study of interictal E.E.G in epilepsy. Rani, M. Usha Report Apr 22, 2013 3218
Do Epilepsy and Migraine share a genetic link? Mar 1, 2013 1120
Silently seizing; common, unrecognized, and frequently missed seizures and their potentially damaging impact on individuals with autism spectrum disorders; an essential guide for parents and professionals. Book review Oct 1, 2012 141
Common nutritional supplement may help treat unique form of autism. Sep 7, 2012 324
New Gene Mutations That Lead to Enlarged Brain Size, Cancer, Autism, Epilepsy Identified. Jul 2, 2012 616
Genes behind enlarged brain size, cancer, autism and epilepsy identified. Jun 30, 2012 368
Part one: infantile spasms: the new consensus. Pellock, John Disease/Disorder overview Aug 1, 2011 1470
Epilepsy trigger found. Mar 20, 2011 318
Investigation of the relationship between clinical and EEG findings of photosensitive epilepsy and GABA receptor alpha 1 subunit (GABRA1) gene mutations/Fotosensitif epilepsilerde klinik ve EEG bulgularinin GABA reseptor alfa 1 alt unitesi (GABRA1) geni mutasyonlari ile iliskisinin arastirilmasi. Yavuz, Ebru Nur; Demirkan, Ayse; Moen, Sanne; Ozdemir, Ozkan; Catal, Suzin; Bebek, Nerses; Ozbek, Ug Report Mar 1, 2011 3118
Genetic defect responsible for epilepsy and mental retardation found. Oct 13, 2010 284
Epileptic seizures linked to ancient gene family? Aug 2, 2010 573
Infantile spasms associated with 5q14.3 deletion. Marashly, Ahmad; Riel-Romero, Rosario Maria S.; Ursin, Susonne; Ghawi, Hani Case study Jul 1, 2010 1547
Late infantile neuronal ceroid lipofuscinosis: a case report/ Gec infantil noronal seroid lipofusinoz: bir olgu sunumu. Yis, Uluc; Kurul, Semra Hiz; Ozogul, Candan; Dirik, Eray Report Jun 1, 2010 977
Boffins identify gene for sudden unexpected death in epilepsy. Apr 14, 2010 505
Worms may offer new epilepsy treatments. Dec 10, 2009 283
Epilepsy linked to disruption of brain development during early childhood. Aug 24, 2009 510
Global: international study breakthrough in epilepsy treatment. Germain, Leah Aug 1, 2009 235
Single gene mutation behind catastrophic epilepsy. Jul 8, 2009 333
Gene linked to most common form of epilepsy identified. Jan 29, 2009 370
Haptoglobin phenotypes in epilepsy. Sadrzadeh, Sayed M.H.; Saffari, Yasi; Bozorgmehr, Jafar Jun 1, 2004 2215
New technology may help identify epilepsy genes: diagnostic and treatment. McNamara, Damian Nov 1, 2003 895
Genetic advances may revolutionize epilepsy Tx: human genome project. (treatment). McNamara, Damian Oct 1, 2003 887
Genetic link to epilepsy after brain injury. Jun 22, 2003 424
Epilepsy and depression may share biologic link. (Right Temporal Abnormality). Kirn, Timothy F. Feb 15, 2003 549
Preliminary studies of gene therapy in an epilepsy rat model. (South Carolina Junior Academy Of Sciences Abstracts). Allen, Kelty Brief Article Jan 1, 2003 252
Genetics and Epilepsy: What We Know Today. Holmes, Gregory L. Mar 1, 2001 1897
Epilepsy gene identified. Brief Article Apr 6, 1996 266
Mice reveal three epilepsy genes. Aug 24, 1991 466

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