Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.
Seizure
; 119: 3-11, 2024 Jul.
Article
em En
| MEDLINE
| ID: mdl-38749256
ABSTRACT
BACKGROUND:
The proline-rich transmembrane protein 2 (PRRT2) is a synaptic protein involved in neurotransmitter vesicle release. PRRT2 protein is highly expressed in the cerebellum, cerebral cortex, basal ganglia, and hippocampus. Variants in PRRT2 have been identified as a cause of several neurological disorders, including epilepsy, movement disorders, and headache.METHODS:
We report two families carrying two distinct PRRT2 mutations showing childhood onset of movement disorders, headache, and epilepsy. Demographics, clinical, EEG, neuroimaging, and genetic sequencing study data were collected. A systematic review of the literature was also performed to dissect the most frequently reported PRRT2-associated epileptic phenotypes.RESULTS:
two variants in PRRT2 gene (NM_145239.3c718C>T, p.Arg240Ter; c.649dupC, p.Arg217Profs*8) were identified. The two variants altered the same extracellular domain of PRRT2. The de novo PRRT2 mutation (c718C>T, p.Arg240Ter) was related to multi-drug-resistant epilepsy. According to the literature, homozygous, biallelic variants and 16p11.2 deletions lead to PRRT2 haploinsufficiency and a more severe phenotype.CONCLUSIONS:
PRRT2 mutations can be associated with several epileptic phenotypes ranging from benign ASM-responsive form to more severe epileptic encephalopathies. Identifying PRRT2 variants in epilepsy patients may help achieve more personalized treatment approaches. However, phenotype-genotype correlations remain a challenge.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Epilepsia
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Proteínas de Membrana
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Proteínas do Tecido Nervoso
Limite:
Adult
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article