المؤلفون: Inn-Chi Lee, Jiann-Jou Yang, Shuan-Yow Li

المصدر: Journal of the Formosan Medical Association, Vol 116, Iss 9, Pp 711-719 (2017)

مصطلحات موضوعية: benign familial neonatal seizures, continuous spikes and waves during slow-wave sleep, E515D mutation, KCNQ2, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0929664616304247Test; https://doaj.org/toc/0929-6646Test

الوصول الحر: https://doaj.org/article/90603507e8334bfebd26fde09d329458Test

المؤلفون: Detlef Trost, Cécile Cieuta-Walti, Laura Mary, Bénédicte Gérard, Alexandra Afenjar, Vincent Laugel, Amélie Piton, Elise Schaefer, Boris Keren, Claire Feger, Thierry Billette, Denys Chaigne, Elsa Nourisson

المصدر: American Journal of Medical Genetics Part A. 185:1803-1815

مصطلحات موضوعية: Male, 0301 basic medicine, Encephalopathy, 030105 genetics & heredity, Biology, 03 medical and health sciences, Epilepsy, Channelopathy, Intellectual Disability, Genetics, medicine, Humans, KCNQ2 Potassium Channel, Missense mutation, Benign familial neonatal seizures, Child, Gene, Genetic Association Studies, Genetics (clinical), Exome sequencing, High-Throughput Nucleotide Sequencing, Electroencephalography, medicine.disease, Phenotype, Epilepsy, Benign Neonatal, 030104 developmental biology, Child, Preschool, Mutation, Potassium, Channelopathies, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26a227ecfcdf1bd6824e6aa2b379968Test
https://doi.org/10.1002/ajmg.a.62181Test

المؤلفون: Anastasios V. Tzingounis, Kristen Springer, Nissi Varghese

المصدر: Dev Neurosci

مصطلحات موضوعية: Nervous system, Cell type, Epilepsy, Disease, Gating, Biology, medicine.disease, Article, Epilepsy, Benign Neonatal, Potassium channel, KCNQ3 Potassium Channel, medicine.anatomical_structure, Developmental Neuroscience, Neurology, Neurodevelopmental Disorders, medicine, Humans, KCNQ2 Potassium Channel, Benign familial neonatal seizures, Age of onset, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77074234cd64ad576ed1931d0ca0693aTest
https://doi.org/10.1159/000515495Test

المؤلفون: Xiang Chen, Xinran Dong, Yuanfeng Zhou, Guoqiang Cheng, Xinhua Wang, Ya-lan Dou, Yan Xu, Bingbing Wu

المصدر: BMC Pediatrics
BMC Pediatrics, Vol 21, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Birth weight, Encephalopathy, Bayley Scales of Infant Development, RJ1-570, Neonate, Medicine, Humans, KCNQ2 Potassium Channel, Ictal, Benign familial neonatal seizures, Toddler, Retrospective Studies, Video-electro-encephalography, business.industry, Research, Wechsler Adult Intelligence Scale, Gestational age, Infant, Electroencephalography, medicine.disease, Prognosis, Variant location, Epilepsy, Benign Neonatal, KCNQ2-related disorder, Multivariate ordinal logistic regression analysis, Pediatrics, Perinatology and Child Health, business, Spasms, Infantile

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75f881073a4c0ad8952cca674f3910c9Test
http://europepmc.org/articles/PMC8555078Test

المؤلفون: Francesco Miceli, Maria Virginia Soldovieri, Licia Lugli, Giulia Bellini, Paolo Ambrosino, Michele Migliore, Emanuele Miraglia del Giudice, Fabrizio Ferrari, Antonio Pascotto, Maurizio Taglialatela

المصدر: Neurobiology of Disease, Vol 34, Iss 3, Pp 501-510 (2009)

مصطلحات موضوعية: Benign familial neonatal seizures, Potassium channels, Kv7 subunits, Channel gating, Neuronal excitability, Voltage-sensing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996109000606Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/a2b5e7fe30894870b7f5c82cf1775b6eTest

المؤلفون: Miceli, F, Striano, P, Soldovieri, MV, FONTANA, Antonina, NARDELLO, Rosaria, Robiano, A, Bellini, G, Elia, M, Zara, F, Taglialatela, M, MANGANO, Salvatore

المساهمون: Miceli, F, Striano, P, Soldovieri, MV, Fontana, A, Nardello, R, Robiano, A, Bellini, G, Elia, M, Zara, F, Taglialatela, M, Mangano, S

مصطلحات موضوعية: Benign Familial Neonatal Seizures, KCNQ, cognitive impairment, voltage-gated potassium channels, epilepsy, mutagenesis, genotype-phenotype correlations, Settore MED/39 - Neuropsichiatria Infantile, Settore M-PSI/08 - Psicologia Clinica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25524373; info:eu-repo/semantics/altIdentifier/wos/WOS:000350146300001; volume:55; numberofpages:6; journal:EPILEPSIA; http://hdl.handle.net/10447/103245Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84923359250

الإتاحة: https://doi.org/10.1111/epi.12887Test
http://hdl.handle.net/10447/103245Test

المؤلفون: Praticò, Andrea D., Giallongo, Alessandro, Arrabito, Marta, D'Amico, Silvia, Gauci, Maria Cristina, Lombardo, Giulia, Polizzi, Agata, Pal, Deb K., Falsaperla, Raffaele, Ruggieri, Martino

المصدر: Praticò , A D , Giallongo , A , Arrabito , M , D'Amico , S , Gauci , M C , Lombardo , G , Polizzi , A , Pal , D K , Falsaperla , R & Ruggieri , M 2021 , ' SCN2A and Its Related Epileptic Phenotypes ' , Journal of Pediatric Neurology . https://doi.org/10.1055/s-0041-1727097Test

مصطلحات موضوعية: autism, benign familial neonatal seizures, epileptic encephalopathy, SCN2A, sodium channel

الإتاحة: https://doi.org/10.1055/s-0041-1727097Test
https://kclpure.kcl.ac.uk/portal/en/publications/d27ff42c-15f8-453d-95dd-71d41a1d9effTest
http://www.scopus.com/inward/record.url?scp=85103666845&partnerID=8YFLogxKTest

المؤلفون: Millichap, J Gordon

المصدر: Pediatric Neurology Briefs; Vol 27, No 04 | Apr 2013; 30-31 ; 2166-6482 ; 1043-3155 ; 10.15844/pedneurbriefs-27-4

مصطلحات موضوعية: Benign Familial Neonatal Seizures, Benign Familial Neonatal-Infantile Seizures, Benign Familial Infantile Seizures

وصف الملف: application/xml; application/pdf

العلاقة: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-4-7/860Test; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-4-7/861Test; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-4-7Test

الإتاحة: https://doi.org/10.15844/pedneurbriefs-27-4-7Test
https://doi.org/10.15844/pedneurbriefs-27-4Test
https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-4-7Test

المؤلفون: J Gordon Millichap

المصدر: Pediatric Neurology Briefs, Vol 27, Iss 4, Pp 30-31 (2013)

مصطلحات موضوعية: benign familial neonatal seizures, benign familial neonatal-infantile seizures, benign familial infantile seizures, Pediatrics, RJ1-570

العلاقة: https://www.pediatricneurologybriefs.com/articles/436Test; https://doaj.org/toc/1043-3155Test; https://doaj.org/toc/2166-6482Test; https://doaj.org/article/e1a1cfcf28e54affb75dbf2bd8669698Test

الإتاحة: https://doi.org/10.15844/pedneurbriefs-27-4-7Test
https://doaj.org/article/e1a1cfcf28e54affb75dbf2bd8669698Test

المؤلفون: Edmar Zanoteli, José Luiz Pedroso, Clara Gontijo Camelo, André Macedo Serafim da Silva, Cristiane de Araújo Martins Moreno, Ciro Matsui-Júnior, Carlos Otto Heise

المصدر: Practical neurology. 20(3)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Adolescent, business.industry, Video Recording, Peripheral Nervous System Diseases, General Medicine, Gene mutation, medicine.disease, Fasciculation, medicine.anatomical_structure, Peripheral nerve, medicine, Upper limb, Humans, Benign familial neonatal seizures, Female, Neurology (clinical), Myokymia, medicine.symptom, Facial Nerve Diseases, business, Muscle cramp, Muscle contracture

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b309b64fed64645896e3102c537e27bTest
https://pubmed.ncbi.nlm.nih.gov/32184343Test