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LEHESJOKI , Anna-Elina

Last name: LEHESJOKI

First name: Anna-Elina

2015 (v1)

Publication

Metadata-only

De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Syrbe, Steffen Hedrich, Ulrike B. S. Riesch, Erik

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Uploaded on: May 13, 2023
2015 (v1)

Publication

Metadata-only

CHD2 variants are a risk factor for photosensitivity in epilepsy

Galizia, Elizabeth C Myers, Candace T Leu, Costin

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We...

Uploaded on: May 13, 2023