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. 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. .

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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.
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