المؤلفون: Yehuda Shapira, Stephen G. Ryan, Raphael Schiffmann

المصدر: Clinical genetics. 40(6)

مصطلحات موضوعية: Genetics, Male, Genetic heterogeneity, Chromosomes, Human, Pair 20, Infant, Newborn, Locus (genetics), Genes, Recessive, Consanguinity, Disease, Biology, medicine.disease, Pedigree, Epilepsy, Locus heterogeneity, Genetic linkage, medicine, Humans, Benign familial neonatal seizures, Female, Epilepsy, Tonic-Clonic, Lod Score, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44d72570c0d9e1977775e29c23f874efTest
https://pubmed.ncbi.nlm.nih.gov/1778008Test

المؤلفون: Maria Szekeresova, Sandra L. Schneider, Stephen G. Ryan, M. Cristina Torres, Max Wiznitzer, Charlotte Hollman

المصدر: Annals of neurology. 29(5)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pediatrics, Genotype, Genetic Linkage, Chromosomes, Human, Pair 20, Epilepsy, Genetic linkage, Convulsion, medicine, Humans, Benign familial neonatal seizures, Family, Genetic Testing, Recombination, Genetic, Genetic heterogeneity, business.industry, Infant, Newborn, Odds ratio, DNA, medicine.disease, Pedigree, Phenotype, Neurology, Female, Neurology (clinical), medicine.symptom, Chromosome 20, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::816b73ab9028a1b616cca6a92f0f0ff4Test
https://pubmed.ncbi.nlm.nih.gov/1859177Test

المؤلفون: Bronwyn E. Grinton, Ingrid E. Scheffer, J.C. Mulley, R.F. Lunan, Sameer M. Zuberi, S.E. Heron, Samuel F. Berkovic, K. Cox

المصدر: European Journal of Paediatric Neurology. 11:33

مصطلحات موضوعية: Genetics, Exon, Pediatrics, Perinatology and Child Health, Gene duplication, medicine, Benign familial neonatal seizures, Neurology (clinical), General Medicine, Biology, medicine.disease, Gene, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::26ba4e08552cc8b6d48a4bb459798a66Test
https://doi.org/10.1016/s1090-3798Test(08)70364-7

المؤلفون: Campistol Plana J

المصدر: Revista de Neurología. 32:444

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Epileptic encephalopathy, General Medicine, Status epilepticus, medicine.disease, Epilepsy, medicine, Etiology, Myoclonic encephalopathy, Benign familial neonatal seizures, Neurology (clinical), medicine.symptom, business, International league against epilepsy, Early onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::661c5d961b1f175b416d543a024899c6Test
https://doi.org/10.33588/rn.3205.2000514Test

المؤلفون: Klaas J. Wierenga, Franchette T. Pascual, Yu-Tze Ng

المصدر: Epilepsy & Behavior Case Reports

مصطلحات موضوعية: KCNQ2, Pediatrics, medicine.medical_specialty, Mutation, Pathology, Benign familial neonatal seizures, business.industry, 20q13.33 deletion, Case Report, Autosomal dominant nocturnal frontal lobe epilepsy, medicine.disease, medicine.disease_cause, Phenotype, Behavioral Neuroscience, Neurology, CHRNA4, Medicine, Brain magnetic resonance imaging, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::481052e040c70256ad916e90ace0a6c1Test

المؤلفون: D.B. Sinclair, Katherine Metrakos, Michael Shevell

المصدر: Pediatric neurology. 2(5)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Favorable prognosis, Electroencephalography, Epilepsy, Developmental Neuroscience, medicine, Humans, Benign familial neonatal seizures, Family history, Evoked Potentials, medicine.diagnostic_test, business.industry, Infant, Newborn, medicine.disease, Key features, Pedigree, Conservative treatment, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Three generations, business, Spasms, Infantile

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd1bad0e76ee1e871077c4ee37ff6a8Test
https://pubmed.ncbi.nlm.nih.gov/3508699Test

المؤلفون: Ingrid Bjerre, Eivor Corelius

المصدر: Acta paediatrica Scandinavica. 57(6)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Epilepsy, business.industry, Infant, Newborn, Autosomal dominant trait, General Medicine, medicine.disease, Prognosis, Infant, Newborn, Diseases, Pediatrics, Perinatology and Child Health, Neonatal convulsions, Etiology, Medicine, Humans, Benign familial neonatal seizures, Female, business, Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e124c49c88bc687fa337feb66bfd8946Test
https://pubmed.ncbi.nlm.nih.gov/5706374Test

المؤلفون: Maurizio Taglialatela, Francesco Miceli, Antonio Pascotto, Giulia Bellini, Giangennaro Coppola, Maria Virginia Soldovieri

المساهمون: Soldovieri, Maria Virginia, Miceli, Francesco, Bellini, Giulia, Coppola, Giangennaro, Pascotto, Antonio, Taglialatela, Maurizio

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Biophysics, Disease, Biology, medicine.disease_cause, Bioinformatics, Biochemistry, KCNQ3 Potassium Channel, Membrane Potentials, Pathogenesis, Epilepsy, medicine, Animals, Humans, KCNQ2 Potassium Channel, Genetic Predisposition to Disease, Benign familial neonatal seizures, Genetics, Mutation, Genetic data, medicine.disease, Phenotype, Epilepsy, Benign Neonatal, Pedigree, Identification (biology), Ion Channel Gating

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb9272859a88ff0b35e92c3b5b3db0cbTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-53049091850&partnerID=MN8TOARSTest

المؤلفون: A. Pascotto, Maurizio Taglialatela, Pasqualina Castaldo, Lucio Annunziato, Giangennaro Coppola, Emanuele Miraglia del Giudice

المساهمون: Castaldo, P, MIRAGLIA DEL GIUDICE, Emanuele, Coppola, G, Pascotto, Antonio, Annunziato, L, Taglialatela, M., Castaldo, Pasqualina, del Giudice, Em, Pascotto, A, Annunziato, Lucio, Taglialatela, Maurizio

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Patch-Clamp Techniques, Potassium Channels, benign familial neonatal convulsion, Arginine, Xenopus, Regulator, Gene Expression, Gating, medicine.disease_cause, Epilepsy, M-current, Benign familial neonatal seizures, Cells, Cultured, Genes, Dominant, KCNQ2, Mutation, Chemistry, General Neuroscience, Potassium channel, Pedigree, Italy, Potassium Channels, Voltage-Gated, Ion Channel Gating, Rapid Communication, medicine.medical_specialty, Microinjections, KCNQ3 Potassium Channel, Structure-Activity Relationship, Internal medicine, medicine, Animals, Humans, KCNQ2 Potassium Channel, Generalized epilepsy, potassium channel gating, muscarinic regulated potassium current, Cell Membrane, medicine.disease, Epilepsy, Benign Neonatal, Protein Structure, Tertiary, Protein Subunits, Endocrinology, Amino Acid Substitution, BFNC, Mutagenesis, Site-Directed, Oocytes, Potassium, epilepsy, S4 voltage sensor

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7e81efa35f567ad0c53f1e475e72090Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-0037082188&partnerID=MN8TOARSTest

المؤلفون: Gerald M. Fenichel, Ross E. Pettit

المصدر: Archives of Neurology. 37:47-48

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Infant, Newborn, MEDLINE, Infant, Autosomal dominant trait, Electroencephalography, medicine.disease, Infant, Newborn, Diseases, Pedigree, Arts and Humanities (miscellaneous), Seizure Disorders, Inborn error of metabolism, Phenytoin, Humans, Medicine, Benign familial neonatal seizures, Neurology (clinical), business, Spasms, Infantile, Familial Epilepsy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d01aacec4988d6f6d4f15419bb94813Test
https://doi.org/10.1001/archneur.1980.00500500077012Test