المؤلفون: Djémié T; Neurogenetics Group, Department of Molecular Genetics, VIB, , Antwerp, Belgium., Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A

المصدر: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2014 Apr; Vol. 85 (4), pp. 462-5. Date of Electronic Publication: 2013 Oct 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy/*genetics , Membrane Proteins/*genetics , Nerve Tissue Proteins/*genetics , Point Mutation/*genetics, Epilepsy/complications ; Epilepsy/diagnosis ; Female ; Humans ; Learning Disabilities/complications ; Learning Disabilities/genetics ; Male ; Motor Skills Disorders/complications ; Motor Skills Disorders/genetics ; Pedigree ; Phenotype

المؤلفون: Scheffer IE; Florey Neuroscience Institutes, Melbourne, Australia., Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM

المصدر: Neurology [Neurology] 2012 Nov 20; Vol. 79 (21), pp. 2104-8. Date of Electronic Publication: 2012 Oct 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, Epilepsy, Benign Neonatal/*genetics , Membrane Proteins/*genetics , Mutation/*genetics , Nerve Tissue Proteins/*genetics , Seizures, Febrile/*genetics, Child, Preschool ; Chorea/diagnosis ; Chorea/genetics ; Epilepsy, Benign Neonatal/diagnosis ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Pedigree ; Seizures, Febrile/diagnosis

SCR Disease Name: Paroxysmal nonkinesigenic dyskinesia

المؤلفون: Heron SE; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia., Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM

المصدر: American journal of human genetics [Am J Hum Genet] 2012 Jan 13; Vol. 90 (1), pp. 152-60.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Athetosis/*genetics , Chorea/*genetics , Epilepsy, Benign Neonatal/*genetics , Membrane Proteins/*genetics , Nerve Tissue Proteins/*genetics , Seizures/*genetics, Age of Onset ; Animals ; Base Sequence ; Brain/pathology ; Child, Preschool ; Chromosomes, Human, Pair 16/genetics ; Humans ; Infant ; Male ; Mice ; Molecular Sequence Data ; Mutation ; Pedigree

SCR Disease Name: Paroxysmal nonkinesigenic dyskinesia