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Article

One case of acute encephalopathy associated with 16p11.2 deletion and PRRT2 gene mutation.

BMC neurology - 30 Jun 2026

Shang SiYu, Wang QiuHong, Wang JiaNing, Song HuiFang, Zhang Jiao, Liu XiaoYang, Gao Xin, Ding ChangHong

Abstract excerpt

BACKGROUND: PRRT2 is associated with autosomal dominant paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE) and other diseases. OBJECTIVE: To explore the phenotypic spectrum associated with PRRT2 mutations, we analyzed a patient carrying a 16p11.2 deletion including PRRT2. METHODS: A retrospective analysis was conducted on the clinical and genetic characteristics of a patient with a...

Read the complete abstract on PubMed

Topics

Humans
Membrane Proteins
Chromosomes, Human, Pair 16
Nerve Tissue Proteins
Chromosome Deletion
Brain Diseases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Chromosome Disorders

Retrospective Studies

Intellectual Disability

Male

Autistic Disorder

Source

Open in PubMed Open full text

Identifiers

PMID: 42380791
DOI: 10.1186/s12883-026-05124-9
PMCID: PMC13591840

Genes

PRRT2
PNKD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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One case of acute encephalopathy associated with 16p11.2 deletion and PRRT2 gene mutation.PMID 42380791Read ↗

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