Advertisement

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

  • Tomohiro Kumada
    Correspondence
    Corresponding author. Address: Department of Pediatrics, Faculty of Medicine, Kyoto University, 54 Shogoinkawaracho, Sakyoku kyoto, Kyoto 606-8507, Japan. Tel.: +81-75-751-3297; fax.: +81-75-752-2361
    Affiliations
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga, Japan

    Department of Pediatrics, Faculty of Medicine, Kyoto University, 54 Shogoinkawaracho, Sakyoku kyoto, Kyoto 606-8507, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Masatoshi Ito
    Affiliations
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Tomoko Miyajima
    Affiliations
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Tatsuya Fujii
    Affiliations
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Takehiko Okuno
    Affiliations
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Toshin Go
    Affiliations
    Department of Pediatrics, Takatsuki Red Cross Hospital, Takatsuki, Osaka, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Haruo Hattori
    Affiliations
    Department of Pediatrics, Faculty of Medicine, Kyoto University, 54 Shogoinkawaracho, Sakyoku kyoto, Kyoto 606-8507, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Mieko Yoshioka
    Affiliations
    Department of Pediatrics, Kobe City Pediatric and General Rehabilitation Center for Challenged, Kobe, Hyogo, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Kenichiro Kobayashi
    Affiliations
    Department of Pediatrics, Kobe City General Hospital, Kobe, Hyogo, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Osamu Kanazawa
    Affiliations
    Department of Pediatrics, National Nishi-Niigata Central Hospital, Niigata, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Jun Tohyama
    Affiliations
    Department of Pediatrics, National Nishi-Niigata Central Hospital, Niigata, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Noriyuki Akasaka
    Affiliations
    Department of Pediatrics, National Nishi-Niigata Central Hospital, Niigata, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Takanori Kamimura
    Affiliations
    Department of Pediatrics, National Nishi-Niigata Central Hospital, Niigata, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Mutsuo Sasagawa
    Affiliations
    Department of Psychiatry, National Nishi-Niigata Central Hospital, Niigata, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Hideki Amagane
    Affiliations
    Department of Psychiatry, National Nishi-Niigata Central Hospital, Niigata, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Kozo Mutoh
    Affiliations
    Department of Pediatrics, Shimada Municipal Hospital. Shizuoka, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Yuriko Yamori
    Affiliations
    Department of Pediatrics, St Joseph's Hospital for the Handicapped, Kyoto, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Toyoko Kanda
    Affiliations
    Department of Pediatrics, St Joseph's Hospital for the Handicapped, Kyoto, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Naoko Yoshida
    Affiliations
    Department of Pediatrics, St Joseph's Hospital for the Handicapped, Kyoto, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Haruyo Hirota
    Affiliations
    Department of Pediatrics, St Joseph's Hospital for the Handicapped, Kyoto, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Rieko Tanaka
    Affiliations
    Department of Pediatrics, Japanese Red Cross Society Wakayama Medical Center, Wakayama, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author
  • Yasushi Hamada
    Affiliations
    Hamada Clinic, Amagasaki, Hyogo, Japan

    Kyoto Multi-institutional Study Group of Pediatric Neurology, Kyoto, Japan
    Search for articles by this author

      Abstract

      While there is an abundance of literature describing the association of chromosome aberrations with epilepsy, only a few refer to the detailed features of epilepsy. It is important to investigate the associations between specific chromosome abnormalities and features of epilepsy to identify genes involved in epilepsy and treat them more effectively. We investigated the correlation between specific chromosome aberrations and epilepsy by sending questionnaires to the members of Kyoto Multi-institutional Study Group of Pediatric Neurology. Seventy-six patients were collected from 10 institutions. Chromosome abnormalities included: Down syndrome (n=19); Angelman syndrome (n=8); Prader-Willi syndrome (n=4); 4p- syndrome (n=3); 1q- syndrome (n=2); 5p- syndrome (n=2); Miller–Dieker syndrome (n=2); 18q- syndrome; (n=2); Klinefelter syndrome; (n=2); and 32 other individual chromosomal aberrations. Overall, the severity of mental retardation correlated with the severity of epilepsy. We could abstract characteristic features of epilepsy in some syndromes. In Angelman and Prader-Willi syndromes, febrile seizures occurred frequently, the onset of epilepsy was in early childhood and seizure phenotype was multiple. Paroxysmal discharge of the occipital region and diffuse high voltage slow wave on electroencephalography were characteristic in Angelman syndrome. In Down syndrome, West syndrome and focal epilepsy were common and the prognosis of epilepsy in West syndrome with Down syndrome was good. In 4p- syndrome, febrile seizures were often seen, and unilateral or generalized clonic or tonic-clonic status epilepticus were characteristic. For the other chromosomal aberrations investigated here, the patient numbers were too small to abstract common features of epilepsy.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Brain and Development
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Singh R.
        • Gardner R.J.M.
        • Crossland K.M.
        • Scheffer I.E.
        • Berkovic S.F.
        Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.
        Epilepsia. 2002; 43: 127-140
        • Schinzel A.
        • Niedrist D.
        Chromosome imbalances associated with epilepsy.
        Am J Med Genet. 2001; 106: 119-124
        • Elia M.
        • Musumeci S.A.
        • Ferri R.
        • Ayala G.F.
        Chromosome abnormalities and epilepsy.
        Epilepsia. 2001; 42: 24-27
        • Guerrini R.
        • Gobbi G.
        • Genton P.
        • Bonanni P.
        • Carrozzo R.
        Chromosomal abnormalities.
        in: Engel Jr, J. Pedley T.A. Epilepsy: a comprehensive textbook. Lippincott–Raven, Philadelphia, PA1997: 2533-2546
        • Gobbi G.
        • Genton P.
        • Pini A.
        • Gurrieri F.
        • Livet M.-O.
        Epilepsies and chromosomal disorders.
        in: Roger J. Bureau M. Dravet C. Genton P. Tassinari C.A. Wolf P. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. John Libbey, Eastleigh2002: 431-455
        • Ieshima A.
        • Takeshita K.
        Chromosome abnormalities and epileptic seizures.
        Jpn J Hum Genet. 1988; 33: 49-60
        • Wang P.J.
        • Lee W.T.
        • Sue W.C.
        • Hou J.W.
        Electroclinical characteristics of seizures: comparing Prader-Willi syndrome with Angelman syndrome.
        Brain Dev. 2003; (doi: 10.1016/j.bradev.2003.11.009)
        • Boyd S.G.
        • Harden A.
        • Patton M.A.
        The EEG in early diagnosis of the Angelman (happy puppet) syndrome.
        Eur J Pediatr. 1988; 147: 508-513
        • Laan L.A.
        • Renier W.O.
        • Arts W.F.
        • Buntinx I.M.
        • vd Burgt I.J.
        • Stroink H.
        • et al.
        Evolution of epilepsy and EEG findings in Angelman syndrome.
        Epilepsia. 1997; 38: 195-199
        • Minassian B.A.
        • DeLorey T.M.
        • Olsen R.W.
        • Philippart M.
        • Bronstein Y.
        • Zhang Q.
        • et al.
        Angelman syndrome: correlations between epilepsy phenotypes and genotypes.
        Ann Neurol. 1998; 43: 485-493
        • Viani F.
        • Romeo A.
        • Viri M.
        • Mastrangelo M.
        • Lalatta F.
        • Selicorni A.
        • et al.
        Seizure and EEG patterns in Angelman syndrome.
        J Child Neurol. 1995; 10: 467-471
        • Tatsuno M.
        • Hayashi M.
        • Iwamoto H.
        • Suzuki Y.
        • Kuroki Y.
        Epilepsy in childhood Down syndrome.
        Brain Dev. 1984; 6: 37-44
        • Pueschel S.M.
        • Louis S.
        • McKnight P.
        Seizure disorders in Down syndrome.
        Arch Neurol. 1991; 48: 318-320
        • Stafstrom C.E.
        • Konkol R.J.
        Infantile spasms in children with Down syndrome.
        Dev Med Child Neurol. 1994; 36: 576-585
        • Silva M.L.
        • Cieuta C.
        • Guerrini R.
        • Plouin P.
        • Livet M.O.
        • Dulac O.
        Early clinical and EEG features of infantile spasms in Down syndrome.
        Epilepsia. 1996; 37: 977-982
        • Aicardi J.
        Neurological aspects of chromosomal anomalies and dysmorphic syndromes.
        in: Aicardi J. Diseases of the nervous system in childhood. 2nd ed. Mac Keith Press, London1998: 154-167
        • Stafstrom C.E.
        • Patxot O.F.
        • Gilmore H.E.
        • Wisniewski K.E.
        Seizures in children with Down syndrome: etiology, characteristics and outcome.
        Dev Med Child Neurol. 1991; 33: 191-200
        • Battaglia A.
        • Carey J.C.
        • Wright T.J.
        Wolf-Hirschhorn (4p-) syndrome.
        Adv Pediatr. 2001; 48: 75-113
        • Sgro V.
        • Riva E.
        • Canevini M.P.
        • Colamaria V.
        • Rottoli A.
        • Minotti L.
        • et al.
        4p- syndrome: a chromosomal disorder associated with a particular EEG pattern.
        Epilepsia. 1995; 36: 1206-1214
        • Gastaut H.
        • Pinsard N.
        • Raybaud C.
        • Aicardi J.
        • Zifkin B.
        Lissencephaly (agyria–pachygyria): clinical findings and serial EEG studies.
        Dev Med Child Neurol. 1987; 29: 167-180
        • Battaglia A.
        • Gurrieri F.
        • Bertini E.
        • Bellacosa A.
        • Pomponi M.G.
        • Paravatou-Petsotas M.
        • et al.
        The inv dup (15) syndrome.
        Neurology. 1997; 48: 1081-1086
        • Inoue Y.
        • Fujiwara T.
        • Matsuda K.
        • Kubota H.
        • Tanaka M.
        • Yagi K.
        • et al.
        Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome.
        Brain. 1997; 120: 939-953
        • Inoue Y.
        Epilepsy in patients with ring chromosome 20.
        Brain Dev. 2003;
        • Murayama K.
        • Greenwood R.S.
        • Rao K.W.
        • Aylsworth A.S.
        Neurological aspects of del (1q) syndrome.
        Am J Med Genet. 1991; 40: 488-492
        • Niebuhr E.
        The cri du chat syndrome. Epidemiology, cytogenetics, and clinical features.
        Hum Genet. 1978; 44: 227-275
        • Stratton R.F.
        • Dobyns W.B.
        • Greenberg F.
        • DeSana J.B.
        • Moore C.
        • Fidone G.
        • et al.
        Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
        Am J Med Genet. 1986; 24: 421-432
        • Kumada T.
        • Ito M.
        • Miyajima T.
        • Fujii T.
        • Okuno T.
        • Kumakura A.
        Intractable epilepsy (apneic seizure) in an infant with 18q deletion syndrome.
        No to Hattatsu. 2003; 35: 521-526
        • Sturm K.
        • Knake S.
        • Schomburg U.
        • Wakat J.P.
        • Hamer H.M.
        • Fritz B.
        • et al.
        Autonomic seizures versus syncope in 18q- deletion syndrome: a case report.
        Epilepsia. 2000; 41: 1039-1043
        • Stephenson J.B.P.
        Autonomic seizures in 18q- syndrome.
        Brain Dev. 2003; (doi: 10.1016/j.bradev.2003.09.016)
        • Wilson M.G.
        • Towner J.W.
        • Forsman I.
        • Siris E.
        Syndromes associated with deletion of the long arm of chromosome 18 [del(18q)].
        Am J Med Genet. 1979; 3: 155-174
        • Chudley A.E.
        • Kovnats S.
        • Ray M.
        Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases.
        Am J Med Genet. 1992; 43: 535-538
        • Krasikov N.
        • Thompson K.
        • Sekhon G.S.
        Monosomy 18q12.1→21.1: a recognizable aneuploidy syndrome? report of a patient and review of the literature.
        Am J Med Genet. 1992; 43: 531-534
        • Williams M.S.
        • Rooney B.L.
        • Williams J.
        • Josephson K.
        • Pauli R.
        Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome.
        Am J Med Genet. 1994; 49: 302-307
        • Haslam R.H.A.
        Seizure in childhood.
        in: Nelson W.E. Textbook of pediatrics. 15th ed. Saunders, Philadelphia1996: 1686-1699