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Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1.
Kara, Bülent; Sarikaya, Cansu Egilmez; Bayrak, Yunus Emre; Günes, Ayfer Sakarya; Güngör, Mesut; Yesil, Gözde.
Afiliación
  • Kara B; Kocaeli University Medical Faculty, Department of Pediatrics, Division of Child Neurology, Kocaeli, Turkey. Electronic address: bkuskudar@gmail.com.
  • Sarikaya CE; Kocaeli University Medical Faculty, Department of Neurology, Kocaeli, Turkey.
  • Bayrak YE; Kocaeli University Medical Faculty, Department of Pediatrics, Kocaeli, Turkey.
  • Günes AS; Kocaeli University Medical Faculty, Department of Pediatrics, Division of Child Neurology, Kocaeli, Turkey.
  • Güngör M; Kocaeli University Medical Faculty, Department of Pediatrics, Division of Child Neurology, Kocaeli, Turkey.
  • Yesil G; Istanbul Bezm-i Alem University, Department of Medical Genetics, Istanbul, Turkey.
Seizure ; 80: 181-182, 2020 08.
Article en En | MEDLINE | ID: mdl-32599536
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropéptidos / Serpinas / Epilepsias Mioclónicas Progresivas / Síndrome de Unverricht-Lundborg Tipo de estudio: Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Seizure Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropéptidos / Serpinas / Epilepsias Mioclónicas Progresivas / Síndrome de Unverricht-Lundborg Tipo de estudio: Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Seizure Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article