Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Sep 8;6(5):e510.
doi: 10.1212/NXG.0000000000000510. eCollection 2020 Oct.

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood

Mario Mastrangelo  1 , Filippo Manti  1 , Maria Teresa Giannini  1 , Renzo Guerrini  1 , Vincenzo Leuzzi  1
Affiliations

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood

Mario Mastrangelo et al. Neurol Genet. .

Erratum in

No abstract available

PubMed Disclaimer

Figures

Figure
Figure. Clinical, neuroradiologic, and EEG features of the reported patient
(A, B, and C) Minor facial dysmorphisms at age 5 months, 7 years, and 30 years (prominent ears and chin, deep-set eyes, and wide mouth with protruding tongue). (D, E, and F) Brain MRI at age 4 years showing frontotemporal cortical atrophy. (G) EEG at age 28 years showing a photoparoxysmal response at 28 Hz.
See this image and copyright information in PMC

References

    1. Weckhuysen S, Ivanovic V, Hendrickx R, et al. . Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology 2013;81:1697–1703. - PMC - PubMed
    1. Mercimek-Mahmutoglu S, Patel J, Cordeiro D, et al. . Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia 2015;56:707–716. - PubMed
    1. Soldovieri MV, Ambrosino P, Mosca I, et al. . Epileptic encephalopathy in a patient with a novel variant in the Kv7.2 S2 transmembrane segment: clinical, genetic, and functional features. Int J Mol Sci 2019;20:E3382. - PMC - PubMed
    1. Wang J, Zhang Q, Chen Y, Yu S, Wu X, Bao X. Rett and Rett-like syndrome: expanding the genetic spectrum to KIF1A and GRIN1 gene. Mol Genet Genomic Med 2019;7:e968. - PMC - PubMed
    1. Vidal S, Brandi N, Pacheco P, et al. . The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome. Eur J Paediatr Neurol 2019;23:609–620. - PubMed

LinkOut - more resources