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Article

NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases.

Seizure - 1 Nov 2021

Yoganathan Sangeetha, Arunachal Gautham, Gowda Vykuntaraju K, Vinayan Kollencheri Puthenveettil, Thomas Maya, Whitney Robyn, Jain Puneet

Abstract excerpt

PURPOSE: This study aimed to describe the phenotype of five new cases of NTRK2-related developmental and epileptic encephalopathy (DEE). METHODS: The clinical features, EEG, neuroimaging and genetics were reviewed for cases with likely pathogenic and pathogenic NTRK2 variants and then summarized. RESULTS: Five cases of NTRK2-related DEE were identified. Four had a previously described recurrent variant in NTRK2...

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Source

Identifiers

PMID: 34425480
DOI: 10.1016/j.seizure.2021.08.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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