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Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania

  • Authors:
    • Magdalena Budisteanu
    • Sorina Mihaela Papuc
    • Alina Erbescu
    • Catrinel Iliescu
    • Maria Dobre
    • Diana Barca
    • Oana Tarta‑Arsene
    • Cristina Motoescu
    • Alice Dica
    • Carmen Sandu
    • Cristina Anghelescu
    • Dana Craiu
    • Aurora Arghir
  • View Affiliations / Copyright

    Affiliations: Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania, Department of Pediatric Neurology, Expertise Centre for Rare Diseases in Pediatric Neurology, Member of The EpiCARE European Reference Network, ‘Prof. Dr. Alex. Obregia’ Clinical Hospital, 041914 Bucharest, Romania
    Copyright: © Budisteanu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 101
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    Published online on: December 1, 2021
       https://doi.org/10.3892/etm.2021.11024
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Abstract

Brain heterotopia is a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to a severe clinical picture (drug‑resistant epilepsy, severe developmental delay). The etiology is multifactorial, including both genetic and environmental factors. In the present study, a cohort of 15 pediatric patients with brain heterotopia were investigated by clinical examination, electroencephalographic studies, brain imaging, and genomic tests. Most of the patients had epileptic seizures, often difficult to control with one antiepileptic drug; another frequent characteristic in the cohort was developmental delay or intellectual disability, in some cases associated with behavioral problems. The genomic studies revealed an interstitial 22q11.2 microduplication, an anomaly not reported previously in heterotopia patients. Comparing the cohort of the present study with that of a previous series of heterotopia patients, both adult and pediatric, similar aspects, such as the high frequency of drug‑resistant epilepsy were observed as well as some differences, such as no systemic malformations and no cases with fatal evolution. The current findings add new data to existing knowledge on a rare heterogeneous disorder. The detailed clinical description, including the epilepsy phenotypes, and genomic profiles bring new insights into a group of disorders, yet to be fully understood.
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Copy and paste a formatted citation
Spandidos Publications style
Budisteanu M, Papuc SM, Erbescu A, Iliescu C, Dobre M, Barca D, Tarta‑Arsene O, Motoescu C, Dica A, Sandu C, Sandu C, et al: Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. Exp Ther Med 23: 101, 2022.
APA
Budisteanu, M., Papuc, S.M., Erbescu, A., Iliescu, C., Dobre, M., Barca, D. ... Arghir, A. (2022). Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. Experimental and Therapeutic Medicine, 23, 101. https://doi.org/10.3892/etm.2021.11024
MLA
Budisteanu, M., Papuc, S. M., Erbescu, A., Iliescu, C., Dobre, M., Barca, D., Tarta‑Arsene, O., Motoescu, C., Dica, A., Sandu, C., Anghelescu, C., Craiu, D., Arghir, A."Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania". Experimental and Therapeutic Medicine 23.1 (2022): 101.
Chicago
Budisteanu, M., Papuc, S. M., Erbescu, A., Iliescu, C., Dobre, M., Barca, D., Tarta‑Arsene, O., Motoescu, C., Dica, A., Sandu, C., Anghelescu, C., Craiu, D., Arghir, A."Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania". Experimental and Therapeutic Medicine 23, no. 1 (2022): 101. https://doi.org/10.3892/etm.2021.11024
Copy and paste a formatted citation
x
Spandidos Publications style
Budisteanu M, Papuc SM, Erbescu A, Iliescu C, Dobre M, Barca D, Tarta‑Arsene O, Motoescu C, Dica A, Sandu C, Sandu C, et al: Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. Exp Ther Med 23: 101, 2022.
APA
Budisteanu, M., Papuc, S.M., Erbescu, A., Iliescu, C., Dobre, M., Barca, D. ... Arghir, A. (2022). Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. Experimental and Therapeutic Medicine, 23, 101. https://doi.org/10.3892/etm.2021.11024
MLA
Budisteanu, M., Papuc, S. M., Erbescu, A., Iliescu, C., Dobre, M., Barca, D., Tarta‑Arsene, O., Motoescu, C., Dica, A., Sandu, C., Anghelescu, C., Craiu, D., Arghir, A."Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania". Experimental and Therapeutic Medicine 23.1 (2022): 101.
Chicago
Budisteanu, M., Papuc, S. M., Erbescu, A., Iliescu, C., Dobre, M., Barca, D., Tarta‑Arsene, O., Motoescu, C., Dica, A., Sandu, C., Anghelescu, C., Craiu, D., Arghir, A."Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania". Experimental and Therapeutic Medicine 23, no. 1 (2022): 101. https://doi.org/10.3892/etm.2021.11024
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