Mutación de protocadherina 19 (PC-DH19), en paciente con epilepsia refractaria / Mutation of protocadherin 19 (PCDH19), in patients with refractory epilepsy
Rev. chil. psiquiatr. neurol. infanc. adolesc. (Impr.)
; 31(2): 30-41, ago.2020. ilus
Article
in Es
| LILACS
| ID: biblio-1395589
Responsible library:
CL1.1
RESUMEN
Paciente de 4 años de edad, con epilepsia de difícil manejo, cuya etiología se atribuye a patología autoinmune y que finalmente se diagnostica una mutación de protocadherina (PCDH19). Se discute la fisiopatología, características clínicas, exámenes y los posibles tratamientos.
ABSTRACT
Four-year-old patient with intractable epilepsy, whose etiology is attributed to autoimmune pathology and who is eventually diagnosed with a protocadherin mutation (PCDH19). Pathophysiology, clinical characteristics, examinations and possible treatments are discussed.
Key words
Full text:
1
Collection:
01-internacional
Database:
LILACS
Main subject:
Drug Resistant Epilepsy
/
Protocadherins
Type of study:
Diagnostic_studies
Limits:
Child, preschool
/
Female
/
Humans
Language:
Es
Journal:
Rev. chil. psiquiatr. neurol. infanc. adolesc. (Impr.)
Journal subject:
Medicina Cl¡nica
/
Neurologia
/
Patologia
/
Pediatria
/
Psiquiatria
Year:
2020
Document type:
Article
Affiliation country: