2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, Khashab H, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American Journal Of Human Genetics 2016, 98: 1249-1255. PMID: 27236917, PMCID: PMC4908178, DOI: 10.1016/j.ajhg.2016.04.008.Peer-Reviewed Original ResearchConceptsGlutamatergic neurotransmissionMovement disordersAbnormalities of glutamateEpileptic-dyskinetic encephalopathyHyperkinetic movement disordersChildhood movement disordersBiallelic pathogenic variantsChronic abnormalitiesNeurological diseasesNeurological disordersMammalian brainPathogenic variantsEpilepsyDisordersFunction mutationsNeurotransmissionAbnormalitiesMonogenic neurological diseasesOuter core proteinFRRS1LEncephalopathyEtiologyChoreoathetosisAMPAExcitatory
2013
P35 – 1937 A new variant detected in GRIN2A by whole-exome sequencing in a patient with intellectual disability with intractable epilepsy
Per H, Caglayan A, Canpolat M, Bilguvar K, Gümüş H, Kumandas S. P35 – 1937 A new variant detected in GRIN2A by whole-exome sequencing in a patient with intellectual disability with intractable epilepsy. European Journal Of Paediatric Neurology 2013, 17: s63. DOI: 10.1016/s1090-3798(13)70214-9.Peer-Reviewed Original Research