The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.
Brain Dev
; 45(8): 422-431, 2023 Sep.
Article
em En
| MEDLINE
| ID: mdl-37142513
ABSTRACT
PURPOSE:
To evaluate the clinical spectrum associated with ATP1A2 variants in Chinese children with hemiplegia, migraines, encephalopathy or seizures.METHODS:
Sixteen children (12 males and 4 females), including ten patients with ATP1A2 variants whose cases had been published previously, were identified using next-generation sequencing.RESULTS:
Fifteen patients had FHM2 (familial hemiplegic migraine type 2), including three who had AHC (alternating hemiplegia of childhood) and one who had drug-resistant focal epilepsy. Thirteen patients had DD (developmental delay). The onset of febrile seizures, which occurred between 5 months and 2 years 5 months (median 1 year 3 months) was earlier than the onset of HM (hemiplegic migraine), which occurred between 1 year 5 months and 13 years (median 3 years 11 months). Disturbance of consciousness subsided first, at 40 h to 9 days (median 4.5 days); hemiplegia and aphasia were resolved slowly, taking 30 min to 6 months (median 17.5 days) for the former and 24 h to over 1 year (median 14.5 days) for the latter. Cranial MRI showed edema in the cerebral hemispheres, mainly the left hemisphereacute attacks. All thirteen FHM2 patients recovered to baseline in 30 min to 6 months. Fifteen patients had between 1 and 7 (median 2) total attacks between the baseline and follow-up timepoints. We report twelve missense variants, including a novel variant ATP1A2 variant, p.G855E.CONCLUSIONS:
The known genotypic and phenotypic spectra of Chinese patients with ATP1A2-related disorders were further expanded. Recurrent febrile seizures and DD combined with paroxysmal hemiplegia and encephalopathy should raise the clinical suspicion of FHM2. The avoidance of triggers and thus the prevention of attacks may be the most effective therapy for FHM2.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Convulsões Febris
/
Enxaqueca com Aura
/
Epilepsia Resistente a Medicamentos
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article