title: PCDH19 mutation in Japanese females with epilepsy.
abstract: OBJECTIVE
  To determine the significance of PCDH19 mutations in Japanese females with epilepsy and to delineate their phenotypes.
  
  
  METHODS
  PCDH19 sequencing analysis was performed in 116 females with various epilepsies, including 97 with Dravet syndrome (83.6%). They were referred for SCN1A analysis, and 52 carried SCN1A mutations.
  
  
  RESULTS
  Seven heterozygous mutations in exon 1 were identified in 7 patients (6.0%): 2 frameshift, 2 nonsense, and 3 missense mutations. One patient was a monozygotic twin, and her sister with mild phenotype carried the same mutation. The main clinical features among these 8 patients included early seizure onset (≤25 months of age), seizure clusters (7/8), fever-associated seizures (7/8), single seizure type (6/8), and late deterioration of intellect (5/8). Seizure durations were generally up to a few minutes, and only one patient developed status epilepticus once. The main seizure types were generalized tonic-clonic (4/8), tonic (3/8) and focal seizures, with (2/8) or without secondary generalization (3/8). Myoclonic, atonic and absence seizures were extremely rare. Two patients had Dravet syndrome (25%), and this proportion was significantly smaller than that in the total subjects (p<0.01).
  
  
  CONCLUSIONS
  PCDH19 mutation is a relatively frequent cause of epilepsy in Japanese females. Dravet syndrome was rare in our cohort.
authors: Department of Pediatrics, School of Medicine, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.
authors: Norimichi
authors: N
authors: Higurashi
authors: Xiuyu
authors: X
authors: Shi
authors: Sawa
authors: S
authors: Yasumoto
authors: Hirokazu
authors: H
authors: Oguni
authors: Masako
authors: M
authors: Sakauchi
authors: Kazuya
authors: K
authors: Itomi
authors: Akie
authors: A
authors: Miyamoto
authors: Hideaki
authors: H
authors: Shiraishi
authors: Takeo
authors: T
authors: Kato
authors: Yoshio
authors: Y
authors: Makita
authors: Shinichi
authors: S
authors: Hirose
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D015820:Cadherins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000091363:Protocadherins
chemical_list: D015820:Cadherins; C438605:PCDH19 protein, human; D000091363:Protocadherins