المؤلفون: Tarek El Halabi, Maya Dirani, Mostafa Hotait, Wassim Nasreddine, Ahmad Beydoun

المصدر: Epilepsia Open, Vol 6, Iss 1, Pp 73-78 (2021)

مصطلحات موضوعية: familial epilepsy of infancy with migrating focal seizures, infantile epileptic encephalopathy, potassium bromide, SZT2, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/1c9787ed998e4daa8e5929beb7c197c4

المؤلفون: Zuberi, Sameer M, Wirrell, Elaine, Yozawitz, Elissa, Wilmshurst, Jo M, Specchio, Nicola, Riney, Kate, Pressler, Ronit, Auvin, Stephane, Samia, Pauline, Hirsch, Edouard, Galicchio, Santiago, Triki, Chahnez, Snead, O Carter, Wiebe, Samuel, Cross, J Helen, Tinuper, Paolo, Scheffer, Ingrid E, Perucca, Emilio, Moshé, Solomon L, Nabbout, Rima

المصدر: Epilepsia (2022)

مصطلحات موضوعية: Dravet syndrome, developmental and epileptic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms, self-limited epilepsies

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10148126/1/Epilepsia%20-%202022%20-%20Zuberi%20-%20ILAE%20classification%20and%20definition%20of%20epilepsy%20syndromes%20with%20onset%20in%20neonates%20and%20infants%20.pdf; https://discovery.ucl.ac.uk/id/eprint/10148126/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10148126/1/Epilepsia%20-%202022%20-%20Zuberi%20-%20ILAE%20classification%20and%20definition%20of%20epilepsy%20syndromes%20with%20onset%20in%20neonates%20and%20infants%20.pdf
https://discovery.ucl.ac.uk/id/eprint/10148126/

المؤلفون: Zuberi, Sameer M., Wirrell, Elaine, Yozawitz, Elissa, Wilmshurst, Jo M., Specchio, Nicola, Riney, Kate, Pressler, Ronit, Auvin, Stephane, Samia, Pauline, Hirsch, Edouard

المصدر: Paediatrics and Child Health, East Africa

مصطلحات موضوعية: developmental and epileptic encephalopathy, Dravet syndrome, epilepsy of infancy with migrating focal seizures, infantile spasms, self- limited epilepsies, Pediatrics

وصف الملف: application/pdf

Relation: https://ecommons.aku.edu/eastafrica_fhs_mc_paediatr_child_health/193; https://ecommons.aku.edu/context/eastafrica_fhs_mc_paediatr_child_health/article/1231/viewcontent/Epilepsia___2022___Zuberi___ILAE_classification_and_definition_of_epilepsy_syndromes_with_onset_in_neonates_and_infants_.pdf

الاتاحة: https://ecommons.aku.edu/eastafrica_fhs_mc_paediatr_child_health/193
https://ecommons.aku.edu/context/eastafrica_fhs_mc_paediatr_child_health/article/1231/viewcontent/Epilepsia___2022___Zuberi___ILAE_classification_and_definition_of_epilepsy_syndromes_with_onset_in_neonates_and_infants_.pdf

المؤلفون: Barbour, Kristen, Tian, Niu, Yozawitz, Elissa G, Wolf, Steven, McGoldrick, Patricia E, Sands, Tristan T, Nelson, Aaron, Basma, Natasha, Grinspan, Zachary M

المصدر: NYMC Faculty Publications

مصطلحات موضوعية: Rasmussen syndrome, Sturge–Weber syndrome, early infantile developmental and epileptic encephalopathy, epilepsy in infancy with migrating focal seizures, epilepsy with myoclonic–atonic seizures, Faculty

وصف الملف: text/html

Relation: https://touroscholar.touro.edu/nymc_fac_pubs/5343; https://touroscholar.touro.edu/context/nymc_fac_pubs/article/6269/type/native/viewcontent/_myncbishare_nymclib.html

الاتاحة: https://touroscholar.touro.edu/nymc_fac_pubs/5343
https://doi.org/10.1111/epi.18029
https://touroscholar.touro.edu/context/nymc_fac_pubs/article/6269/type/native/viewcontent/_myncbishare_nymclib.html

المؤلفون: Darra, Francesca, Lo Barco, Tommaso, Opri, Roberta, Parrini, Elena, Bianchini, Claudia, Fiorini, Elena, Simonati, Alessandro, Dalla Bernardina, Bernardo, Cantalupo, Gaetano, Guerrini, Renzo

المساهمون: Darra, Francesca, Lo Barco, Tommaso, Opri, Roberta, Parrini, Elena, Bianchini, Claudia, Fiorini, Elena, Simonati, Alessandro, Dalla Bernardina, Bernardo, Cantalupo, Gaetano, Guerrini, Renzo

مصطلحات موضوعية: metabolic disease (inherited), status epilepticus, epilepsy of infancy with migrating focal seizures (EIMFS), ARV1 mutations, genetic screening

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34017911; info:eu-repo/semantics/altIdentifier/wos/WOS:001053287300001; volume:7; issue:e593; firstpage:1; lastpage:8; numberofpages:8; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/11562/1043767; https://dx.doi.org/10.1212/NXG.0000000000000593

الاتاحة: http://hdl.handle.net/11562/1043767
https://doi.org/10.1212/NXG.0000000000000593

المؤلفون: Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, des Portes, Vincent, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido

المصدر: ISSN: 0006-8950 ; Brain, vol. 144, no. 12 (2021) p. 3635-3650.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.8, KCNT1, Developmental and epileptic encephalopathies, Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathies, Sleep-related hypermotor epilepsy

Relation: info:eu-repo/semantics/altIdentifier/pmid/34114611; info:eu-repo/grantAgreement/EC/H2020/682345/EU/NEUROBIOLOGY OF EPILEPSY GENES/EPITOR; https://archive-ouverte.unige.ch/unige:158799; unige:158799

الاتاحة: https://archive-ouverte.unige.ch/unige:158799

المؤلفون: Eriko Koshimizu, Masaya Kubota, Mitsuhiro Kato, Naomichi Matsumoto, Rika Kosaki, Ryosuke Urabe, Satoko Miyatake, Yuichi Abe

المصدر: Epilepsy & Seizure. 2022, 14(1):17

المؤلفون: Xiao Mao, Nadine Bruneau, Quwen Gao, Hélène Becq, Zhengjun Jia, Hui Xi, Li Shu, Hua Wang, Pierre Szepetowski, Laurent Aniksztejn

المصدر: Frontiers in Cellular Neuroscience, Vol 14 (2020)

مصطلحات موضوعية: epilepsy of infancy with migrating focal seizures, KNa channels, KCNT genes, epilepsy, encephalopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fncel.2020.00001/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/8bb330b9083748019e9f0984ed78b8c0

المؤلفون: Poisson, Kelsey, Wong, Matthew, Lee, Chon, Cilio, Maria-Roberta

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: European journal of paediatric neurology, Vol. 25, p. 77-81 (2020)

مصطلحات موضوعية: Cannabidiol, Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathy, Treatment resistant epilepsy

Relation: boreal:231731; http://hdl.handle.net/2078.1/231731; info:pmid/31926846; urn:ISSN:1090-3798; urn:EISSN:1532-2130

الاتاحة: http://hdl.handle.net/2078.1/231731
https://doi.org/10.1016/j.ejpn.2019.12.024

المؤلفون: Numis, Adam L, Nair, Umesh, Datta, Anita N, Sands, Tristan T, Oldham, Michael S, Patel, Akash, Li, Melody, Gazina, Elena, Petrou, Steven, Cilio, Maria-Roberta

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Epilepsia, Vol. 59, no.10, p. 1889-1898 (2018)

مصطلحات موضوعية: Animals, Anticonvulsants, Child, Preschool, Electroencephalography, Epilepsy, Female, Follow-Up Studies, Humans, Infant, Kv1.1 Potassium Channel, Magnetic Resonance Imaging, Male, Membrane Potentials, Mutagenesis, Mutation, Oocysts, Patch-Clamp Techniques, Pharmacogenetics, Quinidine, Transduction, Genetic, Treatment Outcome, Xenopus, KCNT1, electrophysiology, epilepsy of infancy with migrating focal seizures, epileptic encephalopathy, precision medicine

Relation: boreal:231741; http://hdl.handle.net/2078.1/231741; info:pmid/30182418; urn:ISSN:0013-9580; urn:EISSN:1528-1167

الاتاحة: http://hdl.handle.net/2078.1/231741
https://doi.org/10.1111/epi.14551

المؤلفون: R. Dilena, J. C. Difrancesco, M. V. Soldovieri, A. Giacobbe, P. Ambrosino, I. Mosca, M. A. Galli, S. Guez, M. Fumagalli, F. Miceli, D. Cattaneo, F. Darra, E. Gennaro, F. Zara, P. Striano, B. Castellotti, C. Gellera, C. Varesio, P. Veggiotti, M. Taglialatela

المساهمون: R. Dilena, J.C. Difrancesco, M.V. Soldovieri, A. Giacobbe, P. Ambrosino, I. Mosca, M.A. Galli, S. Guez, M. Fumagalli, F. Miceli, D. Cattaneo, F. Darra, E. Gennaro, F. Zara, P. Striano, B. Castellotti, C. Gellera, C. Varesio, P. Veggiotti, M. Taglialatela

مصطلحات موضوعية: Developmental encephalopathy, Epilepsy of infancy with migrating focal seizures (EIMFS), KCNT1, Quinidine, Therapeutic drug monitoring (TDM), Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/pmid/30112700; info:eu-repo/semantics/altIdentifier/wos/WOS:000452286500023; volume:15; issue:4; firstpage:1112; lastpage:1126; numberofpages:15; journal:NEUROTHERAPEUTICS; http://hdl.handle.net/2434/585322; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052115388

الاتاحة: http://hdl.handle.net/2434/585322
https://doi.org/10.1007/s13311-018-0657-9

المؤلفون: Wassim Nasreddine, Mostafa Hotait, Tarek El Halabi, Ahmad Beydoun, Maya Dirani

المصدر: Epilepsia Open, Vol 6, Iss 1, Pp 73-78 (2021)
Epilepsia Open

مصطلحات موضوعية: Bromides, Pediatrics, medicine.medical_specialty, Potassium Compounds, Genetic counseling, Twins, Nerve Tissue Proteins, lcsh:RC346-429, Consanguinity, Epilepsy, Fatal Outcome, Ptosis, Seizures, familial epilepsy of infancy with migrating focal seizures, medicine, potassium bromide, Humans, Special Report, lcsh:Neurology. Diseases of the nervous system, Seizure threshold, infantile epileptic encephalopathy, business.industry, Infant, Newborn, Genetic variants, Infant, Electroencephalography, medicine.disease, Hypotonia, Phenotype, medicine.anatomical_structure, Palpebral fissure, Special Reports, Neurology, Forehead, SZT2, Female, Neurology (clinical), medicine.symptom, business, Epileptic Syndromes, Spasms, Infantile

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7c62b818207c9cf6acc670771c4e35
https://doaj.org/article/1c9787ed998e4daa8e5929beb7c197c4

المؤلفون: Bonardi, C.M., Heyne, H.O., Fiannacca, M., Fitzgerald, M.P., Gardella, E., Gunning, B., Olofsson, K., Lesca, G., Verbeek, N., Stamberger, H., Striano, P., Zara, F., Mancardi, M.M., Nava, C., Syrbe, S., Buono, S., Baulac, S., Coppola, A., Weckhuysen, S., Schoonjans, A.S.

المصدر: http://dx.doi.org/10.1093/brain/awab219.

مصطلحات موضوعية: KCNT1, epileptic encephalopathies, epilepsy of infancy with migrating focal seizures, sleep-related hypermotor epilepsy, developmental and epileptic encephalopathies

Relation: http://purl.org/au-research/grants/nhmrc/1104718; Brain: a journal of neurology, 2021; 144(12):3635-3650; https://hdl.handle.net/2440/134313

الاتاحة: https://hdl.handle.net/2440/134313
https://doi.org/10.1093/brain/awab219

المساهمون: Lafferty, Jasmine M. (author), Heiman, Gary (chair), Rispoli, Jessica (member), Seymour, Christine (member), Rutgers University, School of Graduate Studies

مصطلحات موضوعية: Genetics, Disease conceptual model, Epilepsy of infancy with migrating focal seizures, KCNT1-related epilepsy, Sleep hypermotor epilepsy

وصف الملف: 53 pages : illustrations; application/pdf

Relation: Rutgers University Electronic Theses and Dissertations; ETD; School of Graduate Studies Electronic Theses and Dissertations; rucore10001600001; http://dissertations.umi.com/gsnb.rutgers:13037

الاتاحة: http://dissertations.umi.com/gsnb.rutgers:13037

المؤلفون: McTague, Amy, Appleton, Richard, Avula, Shivaram, Cross, J. Helen, King, Mary D., Jacques, Thomas S., Bhate, Sanjay, Cronin, Anthony, Curran, Andrew, Desurkar, Archana, Farrell, Michael A., Hughes, Elaine, Jefferson, Rosalind, Lascelles, Karine, Livingston, John, Meyer, Esther, McLellan, Ailsa, Poduri, Annapurna, Scheffer, Ingrid E., Spinty, Stefan, Kurian, Manju A., Kneen, Rachel

المصدر: McTague , A , Appleton , R , Avula , S , Cross , J H , King , M D , Jacques , T S , Bhate , S , Cronin , A , Curran , A , Desurkar , A , Farrell , M A , Hughes , E , Jefferson , R , Lascelles , K , Livingston , J , Meyer , E , McLellan , A , Poduri , A , Scheffer , I E , Spinty , S , Kurian , M A & Kneen , R 2013 , ' Migrating partial seizures ....

مصطلحات موضوعية: early infantile epileptic encephalopathy, migrating partial seizures in infancy, epilepsy of infancy with migrating focal seizures, malignant migrating partial epilepsy of infancy, infantile seizures, EPILEPTIC ENCEPHALOPATHY, FOCAL SEIZURES, MUTATIONS, LEVETIRACETAM, STIRIPENTOL, SLC25A22, DISORDER

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/3596812b-5885-43c4-9fdc-5f4969991b01

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/3596812b-5885-43c4-9fdc-5f4969991b01
https://doi.org/10.1093/brain/awt073

المؤلفون: Ville, Dorothée, Lesca, Gaetan, Labalme, Audrey, Portes, Vincent, Des, Arzimanoglou, Alexis, Bellescize, Julitta, De

المساهمون: Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Epileptic disorders : international epilepsy journal with videotape ; https://hal.science/hal-03939352 ; Epileptic disorders : international epilepsy journal with videotape, 2020, 22 (3), pp.327-335. ⟨10.1684/epd.2020.1168⟩

مصطلحات موضوعية: FARS2, aminoacyl tRNA transferase, epilepsy of infancy with migrating focal seizures (EIMFS), lactate, MESH: Age of Onset, MESH: Codon, Nonsense, MESH: Consanguinity, MESH: Fatal Outcome, MESH: Humans, MESH: Infant, MESH: Male, MESH: Mitochondrial Proteins, MESH: Phenylalanine-tRNA Ligase, MESH: Seizures, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/32597768; hal-03939352; https://hal.science/hal-03939352; PUBMED: 32597768

الاتاحة: https://hal.science/hal-03939352
https://doi.org/10.1684/epd.2020.1168

المؤلفون: Borlot, Felippe, Abushama, Ahmed, Morrison‐levy, Nadine, Jain, Puneet, Puthenveettil Vinayan, Kollencheri, Abukhalid, Musaad, Aldhalaan, Hesham M., Almuzaini, Hanin S., Gulati, Sheffali, Hershkovitz, Tova, Konanki, Ramesh, Lingappa, Lokesh, Luat, Aimee F., Shafi, Shatha, Tabarki, Brahim, Thomas, Maya, Yoganathan, Sangeetha, Alfadhel, Majid, Arya, Ravindra, Donner, Elizabeth J., Ehaideb, Salleh N., Gowda, Vykuntaraju K., Jain, Vivek, Madaan, Priyanka, Myers, Kenneth A., Otsubo, Hiroshi, Panda, Prateek, Sahu, Jitendra K., Sampaio, Letícia P. B., Sharma, Suvasini, Simard‐tremblay, Elisabeth, Zak, Maria, Whitney, Robyn

مصطلحات موضوعية: KCNT1, ketogenic diet, microcephaly, quinidine, cannabidiol, epilepsy of infancy with migrating focal seizures, Medicine (General), Health Sciences

وصف الملف: application/pdf

Relation: Borlot, Felippe; Abushama, Ahmed; Morrison‐levy, Nadine; Jain, Puneet; Puthenveettil Vinayan, Kollencheri; Abukhalid, Musaad; Aldhalaan, Hesham M.; Almuzaini, Hanin S.; Gulati, Sheffali; Hershkovitz, Tova; Konanki, Ramesh; Lingappa, Lokesh; Luat, Aimee F.; Shafi, Shatha; Tabarki, Brahim; Thomas, Maya; Yoganathan, Sangeetha; Alfadhel, Majid; Arya, Ravindra; Donner, Elizabeth J.; Ehaideb, Salleh N.; Gowda, Vykuntaraju K.; Jain, Vivek; Madaan, Priyanka; Myers, Kenneth A.; Otsubo, Hiroshi; Panda, Prateek; Sahu, Jitendra K.; Sampaio, Letícia P. B.; Sharma, Suvasini; Simard‐tremblay, Elisabeth; Zak, Maria; Whitney, Robyn (2020). "KCNT1- related epilepsy: An international multicenter cohort of 27 pediatric cases." Epilepsia 61(4): 679-692.; https://hdl.handle.net/2027.42/154940; Epilepsia; Ruffin VA, Gu XQ, Zhou D, et al. The sodium- activated potassium channel Slack is modulated by hypercapnia and acidosis. Neuroscience. 2008; 151: 410 - 8.; Barcia G, Fleming MR, Deligniere A, et al. De novo gain- of- function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012; 44: 1255 - 9.; The Human Protein Atlas. KCNT1. Available at: https://www.proteinatlas.org/ENSG00000107147- KCNT1/tissue. Accessed October 3, 2019.; Niday Z, Tzingounis AV. Potassium channel gain of function in epilepsy: an unresolved paradox. Neuroscientist. 2018; 24: 368 - 80.; Bhattacharjee A, Kaczmarek LK. For K+ channels, Na+ is the new Ca2+. Trends Neurosci. 2005; 28: 422 - 8.; Qin L, Wang J, Tian X, et al. Detection and quantification of mosaic mutations in disease genes by next- generation sequencing. J Mol Diagn. 2016; 18: 446 - 53.; Mullen SA, Carney PW, Roten A, et al. Precision therapy for epilepsy due to KCNT1 mutations: a randomized trial of oral quinidine. Neurology. 2018; 90: e67 - 72.; Myers CT, Hollingsworth G, Muir AM, et al. Parental mosaicism in - de novo- epileptic encephalopathies. N Engl J Med. 2018; 378: 1646 - 8.; Kuchenbuch M, Barcia G, Chemaly N, et al. KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP. Brain. 2019; 142: 2996 - 3008.; Møller RS, Heron SE, Larsen LHG, et al. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. 2015; 56: e114 - 20.; Kawasaki Y, Kuki I, Ehara E, et al. Three cases of KCNT1 mutations: malignant migrating partial seizures in infancy with massive systemic to pulmonary collateral arteries. J Pediatr. 2017; 191: 270 - 4.; Mandaan P, Jauhari P, Gupta A, Chakrabarty B, Gulati S. A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures. Brain Dev. 2018; 40: 229 - 32.; Patil AA, Vinayan KP, Roy AG. Two south Indian children with KCNT1- related malignant migrating focal seizures of infancy- clinical characteristics and outcome of targeted treatment with quinidine. Ann Indian Acad Neurol. 2019; 22: 311 - 5.; Harris PA, Taylor R, Minor BL, et al. The REDCap consortium: building an international community of software platform partners. J Biomed Inform. 2019; 95: 103208.; Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)- a metadata- driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009; 42: 377 - 81.; Nykamp K, Anderson M, Powers M, et al. Sherloc: a comprehensive refinement of the ACMG- AMP variant classification criteria. Genet Med. 2017; 19: 1105 - 17.; Ohba C, Kato M, Takahashi N, et al. De novo KCNT1 mutations in early- onset epileptic encephalopathy. Epilepsia. 2015; 56: e121 - 8.; Hansen N, Widman G, Hattingen E, Elger CE, Kunz WS. Mesial temporal lobe epilepsy associated with KCNT1 mutation. Seizure. 2017; 45: 181 - 3.; Routier L, Verny F, Barcia G, et al. Exome sequencing findings in 27 patients with myoclonic- atonic epilepsy: is there a major genetic factor? Clin Genet. 2019; 96: 254 - 60.; Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17: 405 - 24.; Baumer FM, Sheehan M. Quinidine- associated skin discoloration in KCNT1- associated pediatric epilepsy. Neurology. 2017; 89: 2212.; Fitzgerald MP, Fiannacca M, Smith DM, et al. Treatment responsiveness in KCNT1- related epilepsy. Neurotherapeutics. 2019; 16: 848 - 57.; Numis AL, Nair U, Datta AN, et al. Lack of response to quinidine in KCNT1- related neonatal epilepsy. Epilepsia. 2018; 59: 1889 - 98.; Dilena R, DiFrancesco JC, Soldovieri MV, et al. Early treatment with quinidine in 2 patients with epilepsy of infancy with migrating focal seizures (EIMFS) due to gain- of- function KCNT1 mutations: functional studies, clinical responses, and critical issues for personalized therapy. Neurotherapeutics. 2018; 15: 1112 - 26.; Abdelnour E, Gallentine W, McDonald M, Sachdev M, Jiang Y- H, Mikati MA. Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature. Seizure. 2018; 55: 1 - 3.; Chong PF, Nakamura R, Saitsu H, Matsumoto N, Kira R. Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation. Ann Neurol. 2016; 79: 502 - 3.; Mikati MA, Jiang Y- H, Carboni M, et al. Quinidine in the treatment of KCNT1- positive epilepsies. Ann Neurol. 2015; 78: 995 - 9.; Bearden D, Strong A, Ehnot J, DiGiovine M, Dlugos D, Goldberg EM. Targeted treatment of migrating partial seizures of infancy with quinidine. Ann Neurol. 2014; 76: 457 - 61.; Rubboli G, Plazzi G, Picard F, et al. Mild malformations of cortical development in sleep- related hypermotor epilepsy due to KCNT1 mutations. Ann Clin Transl Neurol. 2019; 6: 386 - 91.; Heron SE, Smith KR, Bahlo M, et al. Missense mutations in the sodium- gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012; 44: 1188 - 90.; Ishii A, Shioda M, Okumura A, et al. A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene. 2013; 531: 467 - 71.

الاتاحة: https://hdl.handle.net/2027.42/154940
https://doi.org/10.1111/epi.16480

المؤلفون: Kelsey Poisson, Chon Lee, Maria Roberta Cilio, Matthew Wong

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: European journal of paediatric neurology, Vol. 25, p. 77-81 (2020)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Nerve Tissue Proteins, Potassium Channels, Sodium-Activated, law.invention, Treatment resistant epilepsy, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Dravet syndrome, Randomized controlled trial, law, Seizures, 030225 pediatrics, medicine, Cannabidiol, Humans, Prospective Studies, Epilepsy of infancy with migrating focal seizures, Seizure frequency, business.industry, Epileptic encephalopathy, Infant, General Medicine, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Anticonvulsants, Female, Neurology (clinical), Open label, business, Epileptic Syndromes, Spasms, Infantile, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5076f2af8ddbd4a698e074b8eec77b
https://pubmed.ncbi.nlm.nih.gov/31926846

المؤلفون: Claudia Bianchini, Tommaso Lo Barco, Elena Fiorini, Elena Parrini, Renzo Guerrini, Bernardo Dalla Bernardina, Gaetano Cantalupo, Alessandro Simonati, Roberta Opri, Francesca Darra

المصدر: Neurology Genetics. 7:e593

مصطلحات موضوعية: status epilepticus, Pathology, medicine.medical_specialty, Cerebellum, medicine.diagnostic_test, business.industry, Encephalopathy, ARV1 mutations, genetic screening, Status epilepticus, Neuropathology, epilepsy of infancy with migrating focal seizures (EIMFS), Electroencephalography, medicine.disease, Compound heterozygosity, Epilepsy, medicine.anatomical_structure, Neuroimaging, metabolic disease (inherited), medicine, Neurology (clinical), medicine.symptom, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d4431b9ca99c6d00f7178ab3fc7c184
https://doi.org/10.1212/nxg.0000000000000593

المؤلفون: Jing Peng, Miriam Kessi, Haolin Duan, Fei Yin

المصدر: Child Neurology Open, Vol 5 (2018)
Child Neurology Open

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Epileptic encephalopathy, Multifocal seizures, lcsh:RJ1-570, Case Report, lcsh:Pediatrics, General Medicine, KCNQ2 gene mutation, epilepsy of infancy with migrating focal seizures, medicine.disease, lcsh:RC346-429, 03 medical and health sciences, Epilepsy, 030104 developmental biology, 0302 clinical medicine, Refractory, Mutation (genetic algorithm), medicine, business, infantile spasms, 030217 neurology & neurosurgery, lcsh:Neurology. Diseases of the nervous system

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b248d0092c53f88ca0e1983f73bafcd1
https://doaj.org/article/7fe192ea882f4d39b2e6133d750c77d2