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Specchio N, Ferretti A. Phenotypic overlap and genetic challenges in neurodevelopmental disorders. Dev Med Child Neurol. 2021;63(12):1368doi: 10.1111/dmcn.15053.
Specchio, N., & Ferretti, A. (2021). Phenotypic overlap and genetic challenges in neurodevelopmental disorders. Developmental medicine and child neurology, 63(12), 1368. https://doi.org/10.1111/dmcn.15053
Specchio, Nicola, and Ferretti, Alessandro. "Phenotypic overlap and genetic challenges in neurodevelopmental disorders." Developmental medicine and child neurology vol. 63,12 (2021): 1368. doi: https://doi.org/10.1111/dmcn.15053
Specchio N, Ferretti A. Phenotypic overlap and genetic challenges in neurodevelopmental disorders. Dev Med Child Neurol. 2021 Dec;63(12):1368. doi: 10.1111/dmcn.15053. Epub 2021 Sep 08. PMID: 34495545.
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Dev Med Child Neurol. 2021 Dec;63(12):1368. doi: 10.1111/dmcn.15053. Epub 2021 Sep 08.

Phenotypic overlap and genetic challenges in neurodevelopmental disorders.

Developmental medicine and child neurology

Nicola Specchio, Alessandro Ferretti

Affiliations

  1. Rare and Complex Epilepsy Unit, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

PMID: 34495545 DOI: 10.1111/dmcn.15053

[No abstract available.]

References

  1. Carvill GL, Jansen S, Lacroix A, et al. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. Dev Med Child Neurol 2021; 63: 1441-7. - PubMed
  2. Musto E, Gardella E, Møller RS. Recent advances in treatment of epilepsy-related sodium channelopathies. Eur J Paediatr Neurol 2020; 24: 123-8. - PubMed
  3. Pohlmann-Eden B, Newton M. First seizure: EEG and neuroimaging following an epileptic seizure. Epilepsia 2008; 49(Suppl 1): 19-25. - PubMed
  4. Lindy AS, Stosser MB, Butler E, et al. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia 2018; 59: 1062-71. - PubMed
  5. Srivastava S, Love-Nichols JA, Dies KA, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med 2019; 21: 2413-21. - PubMed

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