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Article

Mutations of PTPN23 in developmental and epileptic encephalopathy.

Human genetics - 1 Nov 2017

Sowada Nadine, Hashem Mais Omar, Yilmaz Rüstem, Hamad Muddathir, Kakar Naseebullah, Thiele Holger, Arold Stefan T, Bode Harald, Alkuraya Fowzan S, Borck Guntram

Abstract excerpt

Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE, often in a de novo fashion, but in many patients, the disease remains molecularly uncharacterized. Here, we describe a new form of DEE in patients with likely...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29090338
DOI: 10.1007/s00439-017-1850-3

Genes

PTPN23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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