Importance of pedigree in patients with familial epilepsy and intellectual disability

Sudanese Journal of Paediatrics
Hüseyin ÇaksenSerdar Ceylaner

Abstract

In this study, we prospectively evaluated demographic characteristics, clinical findings and pedigree patterns in 70 patients with familial epilepsy and/or intellectual disability (ID)/global developmental delay (GDD) and/or motor retardation but without specific etiologic diagnosis to determine genetic inheritance patterns by using at least a three-generation pedigree analysis. Mean age of the patients was 6.85 ± 3.93 years and male/female ratio was 1.50. There was consanguinity between the parents of 47 (67.1%) patients. Only epilepsy was diagnosed in 14 patients; only ID/GDD in 22; epilepsy and ID/GDD in 9 and epilepsy and ID/GDD and motor retardation in 25 patients. Genetic inheritance pattern was definitely determined in 60 (85.7%) patients, and most of the patients (61.4%) displayed autosomal recessive inheritance. Based on our findings, we suggest that a three-generation pedigree analysis should be obtained in all patients with familial neurological disorders, including epilepsy, ID/GDD and motor retardation, to optimise counselling, screening and diagnostic testing.

References

Aug 1, 1992·Pediatric Clinics of North America·G B Schaefer, J B Bodensteiner
Nov 10, 2001·Brain & Development·K SugaiR Tawa
Nov 4, 2004·European Journal of Human Genetics : EJHG·Clara D M van KarnebeekRaoul C M Hennekam
Mar 18, 2008·Seminars in Pediatric Neurology·John B Moeschler
Mar 18, 2008·Seminars in Pediatric Neurology·Marie F GrillYu-Tze Ng
May 30, 2009·Epilepsia·Federico Zara, Amedeo Bianchi
Jul 22, 2010·Nature Reviews. Neurology·Deb K PalWendy K Chung
Aug 17, 2010·Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstétrique Et Gynécologie Du Canada : JOGC·Jo-Ann K BrockSylvie Langlois
Feb 24, 2012·The New England Journal of Medicine·Heather C MeffordEric P Hoffman
Apr 1, 2011·Continuum : Lifelong Learning in Neurology·Jeffery M Vance, Demet Tekin
Sep 4, 2012·Handbook of Clinical Neurology·Ortrud K Steinlein
Dec 19, 2012·Seminars in Pediatric Neurology·Jodie M Vento
Aug 27, 2014·Pediatrics·John B MoeschlerUNKNOWN Committee on Genetics
Aug 7, 2019·Sudanese Journal of Paediatrics·Hüseyin ÇaksenSerdar Ceylaner

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Citations

Aug 7, 2019·Sudanese Journal of Paediatrics·Mustafa Abdalla M Salih, Mohammed Osman Swar
Aug 7, 2019·Sudanese Journal of Paediatrics·Hüseyin ÇaksenSerdar Ceylaner

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