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Article

A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

Clinical genetics - 1 Jun 2025

Silva Sebastián, Venegas Viviana, Valenzuela Marcela, Retamales-Moreno Álvaro, Muñoz-Castro Carolina, Acevedo Hernán, Marengo Juan-José, Okubo Mariko, Takada Sanami, Miyake Noriko

Abstract excerpt

Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in...

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Source

Identifiers

PMID: 39763067
DOI: 10.1111/cge.14685

Genes

CCM2
MBD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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