title: Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene.
abstract: A benign prognosis has been claimed in benign familial infantile seizures (BFIS). However, few studies have assessed the long-term evolution of these patients. The objective of this study is to describe atypical courses and presentations in BFIS families with mutations in PRRT2 gene. We studied clinically affected individuals from five BFIS Spanish families. We found mutations in PRRT2 in all 5 families. A non-BFIS phenotype or an atypical BFIS course was found in 9/25 (36%) patients harbouring a PRRT2 mutation. Atypical features included neonatal onset, mild hemiparesis, learning difficulties or mental retardation, and recurrent seizures during adulthood. We also report a novel PRRT2 mutation (c.121_122delGT). In BFIS families an atypical phenotype was present in a high percentage of the patients. These findings expand the clinical spectrum of PRRT2 mutations including non-benign epileptic phenotypes.
authors: Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors: Rosa
authors: R
authors: Guerrero-López
authors: Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors: Laura
authors: L
authors: Ortega-Moreno
authors: Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors: Beatriz G
authors: BG
authors: Giráldez
authors: Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors: Cristina
authors: C
authors: Alarcón-Morcillo
authors: Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors: Gema
authors: G
authors: Sánchez-Martín
authors: Neuropediatrics, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors: Manuel
authors: M
authors: Nieto-Barrera
authors: Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors: Eva
authors: E
authors: Gutiérrez-Delicado
authors: Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors: Pilar
authors: P
authors: Gómez-Garre
authors: Neuropediatrics Service, Hospital Universitario La Paz, Madrid, Spain.
authors: Antonio
authors: A
authors: Martínez-Bermejo
authors: Neuropediatrics Unit, Hospital Universitario del Niño Jesús, Madrid, Spain.
authors: Juan J
authors: JJ
authors: García-Peñas
authors: Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: joseserratosa@me.com.
authors: José M
authors: JM
authors: Serratosa
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D013030:Spain / Q000453:epidemiology; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
keywords: Epilepsy; Genetics; Infantile convulsions; Learning difficulties