title: X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.
abstract: OBJECTIVE
  We recently reported a Q555X mutation of synapsin 1 (SYN1) on chromosome Xp11-q21 in a family segregating partial epilepsy and autistic spectrum disorder. Herein, we provide a detailed description of the epileptic syndrome in the original family.
  
  
  METHODS
  A total of 34 members from a large French-Canadian family were evaluated. Family members with seizures or epilepsy underwent (when possible) clinical, neuropsychological, electrophysiologic, and neuroimaging assessments.
  
  
  RESULTS
  Epilepsy was diagnosed in 10 family members (4 deceased, 6 living). In addition to occasional spontaneous complex partial seizures, seven family members clearly had reflex seizures triggered by bathing or showering. Hippocampal atrophy was found in two of five epileptic family members family members who underwent magnetic resonance (MR) imaging. Video-electroencephalography (EEG) recordings of three triggered seizures in two affected members showed rhythmic theta activity over temporal head regions. Ictal single-photon emission computed tomography (SPECT) showed temporoinsular perfusion changes. Detailed neuropsychological assessments revealed that SYN1 Q555X male mutation carriers showed specific language impairment and mild autistic spectrum disorder. Female carriers also exhibited reading impairments and febrile seizures but no chronic epilepsy.
  
  
  CONCLUSIONS
  Available evidence suggests that impaired SYN1 function is associated with hyperexcitability of the temporoinsular network and disturbance of high mental functions such as language and social interaction. The presence of reflex bathing seizures, a most peculiar clinical feature, could be helpful in identifying other patients with this syndrome.
authors.affiliation: Division of Neurology, CHUM Notre-Dame, Hospital University of Montreal, Montreal, Quebec, Canada.
authors.forename: Dang Khoa
authors.initials: DK
authors.lastname: Nguyen
authors.affiliation: Division of Neurology, CHUM Notre-Dame, Hospital University of Montreal, Montreal, Quebec, Canada.|Department of Psychology, University of Quebec in Montreal, Montreal, Quebec, Canada.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Rouleau
authors.affiliation: Department of Psychology, University of Quebec in Montreal, Montreal, Quebec, Canada.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Sénéchal
authors.affiliation: Montreal University Geriatric Institute Research Center, Université de Montréal, Montreal, Quebec, Canada.
authors.forename: Ana Inés
authors.initials: AI
authors.lastname: Ansaldo
authors.affiliation: Division of Neurology, CHUM Notre-Dame, Hospital University of Montreal, Montreal, Quebec, Canada.
authors.forename: Micheline
authors.initials: M
authors.lastname: Gravel
authors.affiliation: Department of Experimental Medicine, National Institute of Neuroscience, University of Genova, Genova, Italy.|Department of Neuroscience and Neurotechnologies, The Italian Institute of Technology, Genova, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Benfenati
authors.affiliation: Division of Neurology, CHUM Notre-Dame, Hospital University of Montreal, Montreal, Quebec, Canada.|Centre of Excellence in Neuromics, Université de Montréal, Montreal, Quebec, Canada.
authors.forename: Patrick
authors.initials: P
authors.lastname: Cossette
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001494:Baths / Q000009:adverse effects*; D002648:Child; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011792:Quebec; D012018:Reflex / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
keywords: Bathing epilepsy; Focal epilepsy; Genetics of epilepsy; Hot-water epilepsy; Insula(r); Reflex epilepsy; Temporal