Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS)

Summary Purpose Partial Epilepsy with Pericentral Spikes (PEPS) is a novel Mendelian idiopathic epilepsy with evidence of linkage to Chromosome 4p15. Our aim was to identify the causative mutation in this epilepsy syndrome. Methods We re-annotated all 42 genes in the linked chromosomal region and se...

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Veröffentlicht in:	Epilepsy research 2011-09, Vol.96 (1), p.109-115
Hauptverfasser:	Leschziner, Guy D, Coffey, Alison J, Andrew, Toby, Gregorio, Sheila P, Dias-Neto, Emmanuel, Calafato, Maria, Bentley, David R, Kinton, Lucy, Sander, Josemir W, Johnson, Michael R
Format:	Artikel
Sprache:	eng
Schlagworte:	Alanine - genetics Anticonvulsants. Antiepileptics. Antiparkinson agents Biological and medical sciences Brazil Computational Biology - methods DNA Copy Number Variations Epilepsies, Partial - genetics Family Health Female Genetic Linkage Genotype Glycine - genetics Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Male Medical sciences Mendelian epilepsy Methyltransferases - genetics Nervous system (semeiology, syndromes) Neurology Neuropharmacology Partial Epilepsy with Pericentral Spikes Pedigree PEPS Pharmacology. Drug treatments Q8IYL2
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