Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.

Tan, Yuxia; Hou, Mei; Ma, Shaochun; Liu, Peipei; Xia, Shungang; Wang, Yu; Chen, Liping; Chen, Zongbo

Tan, Yuxia; Hou, Mei; Ma, Shaochun; Liu, Peipei; Xia, Shungang; Wang, Yu; Chen, Liping; Chen, Zongbo.

Afiliación

Tan Y; Department of Pediatrics, The Affiliated Hospital of Qingdao University, No. 59, Haier Road, Qingdao, 266000, China.
Hou M; Department of Pediatrics, Zibo City Maternal and Child Health Hospital, Zibo City, 255029, Shandong Province, China.
Ma S; Department of Pediatric Rehabilitation, The Affiliated Qingdao Women & Children's Hospital of Qingdao University, Qingdao, 266034, China.
Liu P; Department of Pediatric Neurology, The Affiliated Qingdao Women & Children's Hospital of Qingdao University, Qingdao, 266034, China.
Xia S; Department of Pediatrics, The Affiliated Hospital of Qingdao University, No. 59, Haier Road, Qingdao, 266000, China.
Wang Y; Department of Pediatrics, Zibo City Maternal and Child Health Hospital, Zibo City, 255029, Shandong Province, China.
Chen L; Department of Pediatrics, Zibo City Maternal and Child Health Hospital, Zibo City, 255029, Shandong Province, China.
Chen Z; Department of Pediatrics, Zibo City Maternal and Child Health Hospital, Zibo City, 255029, Shandong Province, China.

BMC Med Genet ; 19(1): 92, 2018 06 04.

Article en En | MEDLINE | ID: mdl-29866057

Asunto(s)

Cadherinas/genética; Mutación; Espasmos Infantiles/genética; Espasmos Infantiles/patología; Preescolar; Femenino; Humanos; Lactante; Masculino; Linaje; Pronóstico; Protocadherinas

Palabras clave

Clinical manifestations; Gene variations; Infantile epilepsy; PCDH19

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Cadherinas / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google