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
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References
- Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.Epilepsia. 2002; 43: 127-140
- Chromosome imbalances associated with epilepsy.Am J Med Genet. 2001; 106: 119-124
- Chromosome abnormalities and epilepsy.Epilepsia. 2001; 42: 24-27
- Chromosomal abnormalities.in: Engel Jr, J. Pedley T.A. Epilepsy: a comprehensive textbook. Lippincott–Raven, Philadelphia, PA1997: 2533-2546
- 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
- Chromosome abnormalities and epileptic seizures.Jpn J Hum Genet. 1988; 33: 49-60
- Electroclinical characteristics of seizures: comparing Prader-Willi syndrome with Angelman syndrome.Brain Dev. 2003; (doi: 10.1016/j.bradev.2003.11.009)
- The EEG in early diagnosis of the Angelman (happy puppet) syndrome.Eur J Pediatr. 1988; 147: 508-513
- Evolution of epilepsy and EEG findings in Angelman syndrome.Epilepsia. 1997; 38: 195-199
- Angelman syndrome: correlations between epilepsy phenotypes and genotypes.Ann Neurol. 1998; 43: 485-493
- Seizure and EEG patterns in Angelman syndrome.J Child Neurol. 1995; 10: 467-471
- Epilepsy in childhood Down syndrome.Brain Dev. 1984; 6: 37-44
- Seizure disorders in Down syndrome.Arch Neurol. 1991; 48: 318-320
- Infantile spasms in children with Down syndrome.Dev Med Child Neurol. 1994; 36: 576-585
- Early clinical and EEG features of infantile spasms in Down syndrome.Epilepsia. 1996; 37: 977-982
- 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
- Seizures in children with Down syndrome: etiology, characteristics and outcome.Dev Med Child Neurol. 1991; 33: 191-200
- Wolf-Hirschhorn (4p-) syndrome.Adv Pediatr. 2001; 48: 75-113
- 4p- syndrome: a chromosomal disorder associated with a particular EEG pattern.Epilepsia. 1995; 36: 1206-1214
- Lissencephaly (agyria–pachygyria): clinical findings and serial EEG studies.Dev Med Child Neurol. 1987; 29: 167-180
- The inv dup (15) syndrome.Neurology. 1997; 48: 1081-1086
- Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome.Brain. 1997; 120: 939-953
- Epilepsy in patients with ring chromosome 20.Brain Dev. 2003;
- Neurological aspects of del (1q) syndrome.Am J Med Genet. 1991; 40: 488-492
- The cri du chat syndrome. Epidemiology, cytogenetics, and clinical features.Hum Genet. 1978; 44: 227-275
- 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
- Intractable epilepsy (apneic seizure) in an infant with 18q deletion syndrome.No to Hattatsu. 2003; 35: 521-526
- Autonomic seizures versus syncope in 18q- deletion syndrome: a case report.Epilepsia. 2000; 41: 1039-1043
- Autonomic seizures in 18q- syndrome.Brain Dev. 2003; (doi: 10.1016/j.bradev.2003.09.016)
- Syndromes associated with deletion of the long arm of chromosome 18 [del(18q)].Am J Med Genet. 1979; 3: 155-174
- 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
- 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
- Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome.Am J Med Genet. 1994; 49: 302-307
- Seizure in childhood.in: Nelson W.E. Textbook of pediatrics. 15th ed. Saunders, Philadelphia1996: 1686-1699
Article info
Publication history
Accepted:
December 3,
2003
Received in revised form:
November 5,
2003
Received:
August 19,
2003
Footnotes
☆The paper is based on the lecture given at the Sixth annual meeting of the Infantile Seizure Society, Tokyo, March 15–16, 2003.
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
