Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report
Abstract Background Mutations in PIGN, resulting in a glycosylphosphatidylinositol (GPI) anchor deficiency, typically leads to multiple congenital anomalies-hypotonia-seizures syndrome. However, the link between PIGN and epilepsy or paroxysmal non-kinesigenic dyskinesia (PNKD) is not well-described....
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2022-04-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |