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Article

The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.

Epilepsia - 1 Oct 2016

Holder J Lloyd, Quach Michael M

Abstract excerpt

OBJECTIVE: The coincidence of autism with epilepsy is 27% in those individuals with intellectual disability.1 Individuals with loss-of-function mutations in SHANK3 have intellectual disability, autism, and variably, epilepsy.2-5 The spectrum of seizure semiologies and electroencephalography (EEG) abnormalities has never been investigated in detail. With the recent report that SHANK3 mutations are present in...

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Source

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Identifiers

PMID: 27554343
DOI: 10.1111/epi.13506
PMCID: PMC5547884

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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