Epilepsy and chromosomal disorders: classification

Eponymous chromosomal epilepsy syndromes

• Alfi syndrome: 9p deletion syndrome
• Angelman syndrome: 15q11-q13 deletion
• Down syndrome: Trisomy 21
• Klinefelter syndrome: 47XXY
• Koolen-de Vries syndrome: 17q21.31 microdeletion
• Miller-Dieker syndrome: 17p13.3 deletion
• Pallister-Killian syndrome (PKS): 12p tetrasomy
• Patau syndrome: Trisomy 13
• Phelan McDermid syndrome: 22q13 deletion
• Prader Wili syndrome
• Smith-Magenis syndrome: 17p11.2 deletion
• Williams-Bueren syndrome: 7q deletion syndrome
• Wolf-Hirschhorn syndrome: 4p deletion syndrome

Other chromosomal epilepsy syndromes

References

1. Sorge G, Sorge A. Epilepsy and chromosomal abnormalities. Ital J Pediatr 2010; 36:36.
2. Singh R, Gardner RJ, Crossland KM, Scheffer IE, Berkovic SF. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 2002; 43:127-140.
3. Koolen DA, Pfundt R, Linda K, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet 2016; 24:652-659. 
4. Bernardo P, Madia F, Santulli L, et al. 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome. Brain Dev 2016; 38:663-668.
5. Figura MG, Coppola A, Bottitta M, et al. Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases. Seizure 2014; 23:774-779.
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Related checklists

• Angelman syndrome
• Alfi syndrome
• Miller Dieker syndrome
• Patau syndrome
• Williams Beuren syndrome (WBS)
• Wolf-Hirschhorn syndrome
• 1p36 monosomy
• 1q deletion syndrome
• 2p deletion syndrome
• 2q deletion syndrome
• 3p deletion syndrome
• 6q terminal deletion syndrome
• 15 inversion duplication syndrome
• 15q13.3 microdeletion syndrome
• 18q deletion syndrome
• Fragile X syndrome
• Ring 14 chromosome
• Ring 20 chromosome
• Trisomy 12p