Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature

Gürkan Gürbüz; Filiz Hazan; Selvinaz Edizer; Bahar Toklu Baysal; Ünsal Yilmaz; Aycan Ünalp

doi:doi:10.11648/j.ajim.20180605.11

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Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature

Gürkan Gürbüz, Filiz Hazan, Selvinaz Edizer, Bahar Toklu Baysal, Ünsal Yilmaz, Aycan Ünalp

Published in American Journal of Internal Medicine (Volume 6, Issue 5)

Received: 8 July 2018 Accepted: 23 July 2018 Published: 20 August 2018

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Abstract

Many chromosomal anomalies manifest with epilepsy. Only few typical EEG and seizure type have been identified in genetic syndromes. Identification of typical seizure and EEG findings of certain genetic syndromes may serve as a guide for genetic analysis. This study aims to find typical EEG paterns of spesific genetic syndromes. The study enrolled 50 patients aged 0-16 years with a diagnosis of epilepsy and genetic syndrome in between 2014-2017 at the Dr. Behçet UZ Children’s Hospital Pediatric Neurology and Medical Genetics departments. Patients' characteristics and dysmorphic features were retrieved from Medical Genetic outpatient clinic patient files, while seizure type, epileptic syndromic classification, EEG and brain MRI findings, age at onset and frequency of seizure were determined from pediatric neurology follow-ups. Fifty patients (29 girls) with a mean age of 6.52 ±3.67 years (max=16, min=1) were enrolled. Twenty-two patients had microdeletion-duplication (44%), 12 had chromosomal anomalies (24%) and 16 had monogenic syndrome (32%). Pathology was present in the EEGs of 40 patients (80%). Focal epileptic disorder was determined in 28 subjects (56%), epileptic encephalopathy in 7 (14%), and generalized epileptic disorder in 5 (10%) Identification of seizure type and EEG pattern specific to each genetic dysmorphic syndrome may give clues to clinicians in recognizing these syndromes. However, in order to detect other specific EEG patterns, there is a need for multicentre studies with more patients.

Published in	American Journal of Internal Medicine (Volume 6, Issue 5)
DOI	10.11648/j.ajim.20180605.11
Page(s)	86-93
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Epilepsy, Electroencephalography, Genetic Syndrome

References

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[3]	Buiting, K, Williams C, & Horsthemke B. Angelman syndrome—insights into a rare neurogenetic disorder. Nat Rev Neurol. 2016 Oct; 12 (10):584-93.
[4]	Sorge and Sorge, Epilepsy and chromosomal abnormalities. Ital J Pediatr 2010; 3: 36.
[5]	PJ Wang, JW Hou, WC Sue, WT Lee. Electroclinical characteristics of seizures—comparing Prader-Willi syndrome with Angelman syndrome. Brain Dev 2005; 4: 101–107.
[6]	MS Yum, EH Lee, JH Kim, TS Ko, HW Yoo. Implications of slow waves and shifting epileptiform discharges in Angelman syndrome. Brain Dev 2013; 35: 245–251.
[7]	Bakke, KA, Howlin, P, Retterstøl L, Kanavin ØJ, Heiberg A, Nærland T. Effect of epilepsy on autism symptoms in Angelman syndrome. Molecular autism, 2018:9 (1), 2.
[8]	Verrotti, A, Cusmai R, Laino D, Falsaperla R, Margari L, Rizzo R et al. Long-term outcome of epilepsy in patients with Prader–Willi syndrome. Journal of neurology, 2015:262 (1), 116-123.
[9]	Ville D, Kaminska A, Bahi-Buisson N et. al. Early pattern of epilepsy in the ring chromosome 20 syndrome. Epilepsia 2006; 47: 543-549.
[10]	Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L et al. Epilepsy in ring chromosome 20 syndrome. Epilepsy research, 2016:128, 83-93.
[11]	Yip MY. Autosomal ring chromosomes in human genetic disorders. Translational pediatrics, 2015:4 (2), 164.
[12]	Alpman A, Serdaroglu G, Cogulu O et. al. Ring chromosome 20 syndrome with intractable epilepsy. Dev Med Child Neurol 2005; 47: 343-346.
[13]	Chawla J, Sucholeiki R, Jones C, Silver K. Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature. J Child Neurol 2002; 17: 778-780.
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[15]	Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185-188.
[16]	Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 2010:68, 944–950.
[17]	Dolce A, Ben-Zeev B, Naidu S, Kossoff EH. Rett syndrome and epilepsy: an update for child neurologists. Pediatr Neurol 2013; 48:337-345.
[18]	Alfei E, Raviglione F, Franceschetti S et. al. Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes. Am J Med Genet Part A 2014; 164A:3154–3161.
[19]	Verrotti A, Cusmai R, Nicita F et. al. Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome. Pediatr 2013; 163: 1754-1758.
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Gürkan Gürbüz, Filiz Hazan, Selvinaz Edizer, Bahar Toklu Baysal, Ünsal Yilmaz, et al. (2018). Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature. American Journal of Internal Medicine, 6(5), 86-93. https://doi.org/10.11648/j.ajim.20180605.11

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ACS Style

Gürkan Gürbüz; Filiz Hazan; Selvinaz Edizer; Bahar Toklu Baysal; Ünsal Yilmaz, et al. Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature. Am. J. Intern. Med. 2018, 6(5), 86-93. doi: 10.11648/j.ajim.20180605.11

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AMA Style

Gürkan Gürbüz, Filiz Hazan, Selvinaz Edizer, Bahar Toklu Baysal, Ünsal Yilmaz, et al. Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature. Am J Intern Med. 2018;6(5):86-93. doi: 10.11648/j.ajim.20180605.11

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@article{10.11648/j.ajim.20180605.11,
  author = {Gürkan Gürbüz and Filiz Hazan and Selvinaz Edizer and Bahar Toklu Baysal and Ünsal Yilmaz and Aycan Ünalp},
  title = {Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature},
  journal = {American Journal of Internal Medicine},
  volume = {6},
  number = {5},
  pages = {86-93},
  doi = {10.11648/j.ajim.20180605.11},
  url = {https://doi.org/10.11648/j.ajim.20180605.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajim.20180605.11},
  abstract = {Many chromosomal anomalies manifest with epilepsy. Only few typical EEG and seizure type have been identified in genetic syndromes. Identification of typical seizure and EEG findings of certain genetic syndromes may serve as a guide for genetic analysis. This study aims to find typical EEG paterns of spesific genetic syndromes. The study enrolled 50 patients aged 0-16 years with a diagnosis of epilepsy and genetic syndrome in between 2014-2017 at the Dr. Behçet UZ Children’s Hospital Pediatric Neurology and Medical Genetics departments. Patients' characteristics and dysmorphic features were retrieved from Medical Genetic outpatient clinic patient files, while seizure type, epileptic syndromic classification, EEG and brain MRI findings, age at onset and frequency of seizure were determined from pediatric neurology follow-ups. Fifty patients (29 girls) with a mean age of 6.52 ±3.67 years (max=16, min=1) were enrolled. Twenty-two patients had microdeletion-duplication (44%), 12 had chromosomal anomalies (24%) and 16 had monogenic syndrome (32%). Pathology was present in the EEGs of 40 patients (80%). Focal epileptic disorder was determined in 28 subjects (56%), epileptic encephalopathy in 7 (14%), and generalized epileptic disorder in 5 (10%) Identification of seizure type and EEG pattern specific to each genetic dysmorphic syndrome may give clues to clinicians in recognizing these syndromes. However, in order to detect other specific EEG patterns, there is a need for multicentre studies with more patients.},
 year = {2018}
}

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TY - JOUR
T1 - Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature
AU - Gürkan Gürbüz
AU - Filiz Hazan
AU - Selvinaz Edizer
AU - Bahar Toklu Baysal
AU - Ünsal Yilmaz
AU - Aycan Ünalp
Y1 - 2018/08/20
PY - 2018
N1 - https://doi.org/10.11648/j.ajim.20180605.11
DO - 10.11648/j.ajim.20180605.11
T2 - American Journal of Internal Medicine
JF - American Journal of Internal Medicine
JO - American Journal of Internal Medicine
SP - 86
EP - 93
PB - Science Publishing Group
SN - 2330-4324
UR - https://doi.org/10.11648/j.ajim.20180605.11
AB - Many chromosomal anomalies manifest with epilepsy. Only few typical EEG and seizure type have been identified in genetic syndromes. Identification of typical seizure and EEG findings of certain genetic syndromes may serve as a guide for genetic analysis. This study aims to find typical EEG paterns of spesific genetic syndromes. The study enrolled 50 patients aged 0-16 years with a diagnosis of epilepsy and genetic syndrome in between 2014-2017 at the Dr. Behçet UZ Children’s Hospital Pediatric Neurology and Medical Genetics departments. Patients' characteristics and dysmorphic features were retrieved from Medical Genetic outpatient clinic patient files, while seizure type, epileptic syndromic classification, EEG and brain MRI findings, age at onset and frequency of seizure were determined from pediatric neurology follow-ups. Fifty patients (29 girls) with a mean age of 6.52 ±3.67 years (max=16, min=1) were enrolled. Twenty-two patients had microdeletion-duplication (44%), 12 had chromosomal anomalies (24%) and 16 had monogenic syndrome (32%). Pathology was present in the EEGs of 40 patients (80%). Focal epileptic disorder was determined in 28 subjects (56%), epileptic encephalopathy in 7 (14%), and generalized epileptic disorder in 5 (10%) Identification of seizure type and EEG pattern specific to each genetic dysmorphic syndrome may give clues to clinicians in recognizing these syndromes. However, in order to detect other specific EEG patterns, there is a need for multicentre studies with more patients.
VL - 6
IS - 5
ER -

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Author Information

Gürkan Gürbüz

Dr. Beh?et Uz Children’s Hospital, Department of Pediatric Neurology, University of Health Sciences, Izmir, Turkey
Filiz Hazan

Dr. Beh?et Uz Children’s Hospital, Department of Medical Genetics, University of Health Sciences, Izmir, Turkey
Selvinaz Edizer

Dr. Beh?et Uz Children’s Hospital, Department of Pediatric Neurology, University of Health Sciences, Izmir, Turkey
Bahar Toklu Baysal

Dr. Beh?et Uz Children’s Hospital, Department of Pediatric Neurology, University of Health Sciences, Izmir, Turkey
Ünsal Yilmaz
Aycan Ünalp

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APA Style

Gürkan Gürbüz, Filiz Hazan, Selvinaz Edizer, Bahar Toklu Baysal, Ünsal Yilmaz, et al. (2018). Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature. American Journal of Internal Medicine, 6(5), 86-93. https://doi.org/10.11648/j.ajim.20180605.11

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ACS Style

Gürkan Gürbüz; Filiz Hazan; Selvinaz Edizer; Bahar Toklu Baysal; Ünsal Yilmaz, et al. Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature. Am. J. Intern. Med. 2018, 6(5), 86-93. doi: 10.11648/j.ajim.20180605.11

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AMA Style

Gürkan Gürbüz, Filiz Hazan, Selvinaz Edizer, Bahar Toklu Baysal, Ünsal Yilmaz, et al. Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature. Am J Intern Med. 2018;6(5):86-93. doi: 10.11648/j.ajim.20180605.11

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@article{10.11648/j.ajim.20180605.11,
  author = {Gürkan Gürbüz and Filiz Hazan and Selvinaz Edizer and Bahar Toklu Baysal and Ünsal Yilmaz and Aycan Ünalp},
  title = {Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature},
  journal = {American Journal of Internal Medicine},
  volume = {6},
  number = {5},
  pages = {86-93},
  doi = {10.11648/j.ajim.20180605.11},
  url = {https://doi.org/10.11648/j.ajim.20180605.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajim.20180605.11},
  abstract = {Many chromosomal anomalies manifest with epilepsy. Only few typical EEG and seizure type have been identified in genetic syndromes. Identification of typical seizure and EEG findings of certain genetic syndromes may serve as a guide for genetic analysis. This study aims to find typical EEG paterns of spesific genetic syndromes. The study enrolled 50 patients aged 0-16 years with a diagnosis of epilepsy and genetic syndrome in between 2014-2017 at the Dr. Behçet UZ Children’s Hospital Pediatric Neurology and Medical Genetics departments. Patients' characteristics and dysmorphic features were retrieved from Medical Genetic outpatient clinic patient files, while seizure type, epileptic syndromic classification, EEG and brain MRI findings, age at onset and frequency of seizure were determined from pediatric neurology follow-ups. Fifty patients (29 girls) with a mean age of 6.52 ±3.67 years (max=16, min=1) were enrolled. Twenty-two patients had microdeletion-duplication (44%), 12 had chromosomal anomalies (24%) and 16 had monogenic syndrome (32%). Pathology was present in the EEGs of 40 patients (80%). Focal epileptic disorder was determined in 28 subjects (56%), epileptic encephalopathy in 7 (14%), and generalized epileptic disorder in 5 (10%) Identification of seizure type and EEG pattern specific to each genetic dysmorphic syndrome may give clues to clinicians in recognizing these syndromes. However, in order to detect other specific EEG patterns, there is a need for multicentre studies with more patients.},
 year = {2018}
}

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