E-ISSN 1858-8360 | ISSN 0256-4408
 

Short Communication 


Importance of pedigree in patients with familial epilepsy and intellectual disability

Hüseyin Çaksen, Fesih Aktar, Gökçen Yıldırım, Serdar 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 3-generation pedigree analysis to determine genetic inheritance patterns by using a comprehensive 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; epilepsy and ID/GDD and motor retardation in 25 patients. Genetic inheritance pattern was definitely determined in 60 (85.7%) patients, and most of patients (61.4%) displayed autosomal recessive inheritance. Based on our findings, we suggest that a 3-generation pedigree analysis should be obtained in all patients with familial neurological disorders including epilepsy, ID/GDD, and motor retardation etc., to optimize counseling, screening, and diagnostic testing.

Key words: Pedigree; Familial epilepsy; Intellectual disability


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Hüseyin Çaksen
Articles by Fesih Aktar
Articles by Gökçen Yıldırım
Articles by Serdar Ceylaner
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

Caksen H, Aktar F, Yıldırım G, Ceylaner S, . Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudan J Paed. 2019; 19(1): 52-56. doi:10.24911/SJP.106-1536222362


Web Style

Caksen H, Aktar F, Yıldırım G, Ceylaner S, . Importance of pedigree in patients with familial epilepsy and intellectual disability. https://sudanjp.com//?mno=7109 [Access: February 06, 2024]. doi:10.24911/SJP.106-1536222362


AMA (American Medical Association) Style

Caksen H, Aktar F, Yıldırım G, Ceylaner S, . Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudan J Paed. 2019; 19(1): 52-56. doi:10.24911/SJP.106-1536222362



Vancouver/ICMJE Style

Caksen H, Aktar F, Yıldırım G, Ceylaner S, . Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudan J Paed. (2019), [cited February 06, 2024]; 19(1): 52-56. doi:10.24911/SJP.106-1536222362



Harvard Style

Caksen, H., Aktar, . F., Yıldırım, . G., Ceylaner, . S. & (2019) Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudan J Paed, 19 (1), 52-56. doi:10.24911/SJP.106-1536222362



Turabian Style

Caksen, Huseyin, Fesih Aktar, Gokcen Yıldırım, Serdar Ceylaner, and . 2019. Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudanese Journal of Paediatrics, 19 (1), 52-56. doi:10.24911/SJP.106-1536222362



Chicago Style

Caksen, Huseyin, Fesih Aktar, Gokcen Yıldırım, Serdar Ceylaner, and . "Importance of pedigree in patients with familial epilepsy and intellectual disability." Sudanese Journal of Paediatrics 19 (2019), 52-56. doi:10.24911/SJP.106-1536222362



MLA (The Modern Language Association) Style

Caksen, Huseyin, Fesih Aktar, Gokcen Yıldırım, Serdar Ceylaner, and . "Importance of pedigree in patients with familial epilepsy and intellectual disability." Sudanese Journal of Paediatrics 19.1 (2019), 52-56. Print. doi:10.24911/SJP.106-1536222362



APA (American Psychological Association) Style

Caksen, H., Aktar, . F., Yıldırım, . G., Ceylaner, . S. & (2019) Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudanese Journal of Paediatrics, 19 (1), 52-56. doi:10.24911/SJP.106-1536222362





Most Viewed Articles
Most Accessed Articles

  • Rheumatic heart disease in North Darfur: an alarmingly high burden and control initiative
    Nagwa Salih, Ishag Eisa, Daresalam Ishag, Intisar Ibrahim, Sulafa Ali
    Sudan J Paed. 2018; 18(1): 24-27
    » Abstract » doi: 10.24911/SJP.2018.1.4

  • Feeding growth restricted premature neonates: a challenging perspective
    Siba Prosad Paul, Emily Natasha Kirkham, Katherine Amy Hawton, Paul Anthony Mannix
    Sudan J Paed. 2018; 18(2): 5-14
    » Abstract » doi: 10.24911/SJP.106-1519511375

  • Congenital brain malformations in Sudanese children: an outpatient-based study
    Inaam Noureldyme Mohammed, Soad Abdalaziz Suliman, Maha A Elseed, Ahlam Abdalrhman Hamed, Mohamed Osman Babiker, Shaimaa Osman Taha
    Sudan J Paed. 2018; 18(1): 48-56
    » Abstract » doi: 10.24911/SJP.2018.1.7

  • Evaluation of Science. [eng]
    Adnan Mahmmood Usmani; Sultan Ayoub Meo
    Sudan J Paed. 2011; 11(1): 6-7
    » Abstract

  • Medical education and services in an extreme environment
    Mustafa Abdalla M. Salih, Mohammed Osman Swar
    Sudan J Paed. 2018; 18(1): 2-5
    » Abstract » doi: 10.24911/SJP.2018.1.1

  • Most Downloaded
    Top Downloaded Articles

  • The role of micronutrients in thyroid dysfunction
    Amir Babiker, Afnan Alawi, Mohsen Al Atawi, Ibrahim Al Alwan
    Sudan J Paed. 2020; 20(1): 13-19
    » Abstract » doi: 10.24911/SJP.106-1587138942

  • Why mothers are not exclusively breast feeding their babies till 6 months of age? Knowledge and practices data from two large cities of the Kingdom of Saudi Arabia
    Hafsa Raheel, Shabana Tharkar
    Sudan J Paed. 2018; 18(1): 28-38
    » Abstract » doi: 10.24911/SJP.2018.1.5

  • Relactation in lactation failure and low milk supply
    Anita Mehta, Arvind Kumar Rathi, Komal Prasad Kushwaha, Abhishek Singh
    Sudan J Paed. 2018; 18(1): 39-47
    » Abstract » doi: 10.24911/SJP.2018.1.6

  • Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review
    Majid Alfadhel, Amir Babiker
    Sudan J Paed. 2018; 18(1): 10-23
    » Abstract » doi: 10.24911/SJP.2018.1.3

  • Neonatal polycythaemia
    Bashir Abdrhman Bashir, Suhair Abdrahim Othman
    Sudan J Paed. 2019; 19(2): 81-83
    » Abstract » doi: 10.24911/SJP.106-1566075225

  • Most Cited Articles
    Most Cited Articles

  • Anti-diabetic medications: How to make a choice?
    Amir Babiker, Mohammed Al Dubayee
    Sudan J Paed. 2017; 17(2): 11-20
    » Abstract » doi: 10.24911/SJP.2017.2.12
    Cited : 8 times [Click to see citing articles]

  • Commitment to the wellbeing of children worldwide. [eng]
    Mustafa Abdalla M Salih; Satti Abdelrahim Satti
    Sudan J Paed. 2011; 11(2): 4-5
    » Abstract
    Cited : 4 times [Click to see citing articles]

  • Pattern of malaria in hospitalized children in Khartoum state
    Hasan Awadalla Hashim, Eltigani Mohamed Ahmed Ali
    Sudan J Paed. 2017; 17(2): 35-41
    » Abstract » doi: 10.24911/SJP.2017.2.4
    Cited : 4 times [Click to see citing articles]

  • The role of micronutrients in thyroid dysfunction
    Amir Babiker, Afnan Alawi, Mohsen Al Atawi, Ibrahim Al Alwan
    Sudan J Paed. 2020; 20(1): 13-19
    » Abstract » doi: 10.24911/SJP.106-1587138942
    Cited : 4 times [Click to see citing articles]

  • Broad beans ( Vicia faba ) and the potential to protect from COVID-19 coronavirus infection
    Mutasim I. Khalil, Mustafa A. Salih, Ali A. Mustafa
    Sudan J Paed. 2020; 20(1): 10-12
    » Abstract » doi: 10.24911/SJP.1061585398078
    Cited : 4 times [Click to see citing articles]