title: Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation.
abstract: We describe a girl with Down syndrome who experienced focal seizures and epileptic spasms during infancy. The patient was diagnosed as having trisomy 21 during the neonatal period. She had focal seizures at five months of age, which were controlled with phenobarbital. However, epileptic spasms appeared at seven months of age in association with hypsarrhythmia. Upon treatment with adrenocorticotropic hormone, her epileptic spasms disappeared. Her younger brother also had focal seizures at five months of age. His development and interictal electroencephalogram were normal. The patient's father had had infantile epilepsy and paroxysmal kinesigenic dyskinesia. We performed a mutation analysis of the PRRT2 gene and found a c.841T>C mutation in the present patient, her father, and in her younger brother. We hypothesized that the focal seizures in our patient were caused by the PRRT2 mutation, whereas the epileptic spasms were attributable to trisomy 21.
authors: Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan. Electronic address: aigara@juntendo.ac.jp.
authors: Ayuko
authors: A
authors: Igarashi
authors: Department of Pediatrics, Aichi Medical University, Japan.
authors: Akihisa
authors: A
authors: Okumura
authors: Tokyo Women's Medical University, Institute for Integrated Medical Sciences, Japan.
authors: Keiko
authors: K
authors: Shimojima
authors: Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan.
authors: Shinpei
authors: S
authors: Abe
authors: Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan.
authors: Mitsuru
authors: M
authors: Ikeno
authors: Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan.
authors: Toshiaki
authors: T
authors: Shimizu
authors: Tokyo Women's Medical University, Institute for Integrated Medical Sciences, Japan.
authors: Toshiyuki
authors: T
authors: Yamamoto
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000187:drug effects / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004314:Down Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012640:Seizures / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology
chemical_list: D000927:Anticonvulsants; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
keywords: Benign infantile epilepsy; Down syndrome; Epileptic spasms; PRRT2 mutation