Your browser doesn't support javascript.
loading
POGZ-related epilepsy: Case report and review of the literature.
Ferretti, Alessandro; Barresi, Sabina; Trivisano, Marina; Ciolfi, Andrea; Dentici, Maria L; Radio, Francesca C; Vigevano, Federico; Tartaglia, Marco; Specchio, Nicola.
Afiliación
  • Ferretti A; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Barresi S; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Trivisano M; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Dentici ML; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Radio FC; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Vigevano F; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Specchio N; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Am J Med Genet A ; 179(8): 1631-1636, 2019 08.
Article en En | MEDLINE | ID: mdl-31136090
POGZ (# 614787) encodes a multidomain nuclear protein involved in transcriptional regulation and its defective function has been recently associated with a syndromic neurodevelopmental disorder, known as White-Sutton syndrome (# 616364). While originally epileptic seizures were unreported, it seems that epilepsy represents a recurrent feature in affected subjects. Few data, however, are available on electroclinical features of POGZ-related epilepsy. We report a 5-year-old girl with a de novo inactivating POGZ mutation with a complex neurological phenotype characterized by hypotonia, severe developmental delay, and paroxysmal epileptic and nonepileptic events. Comparing this patient with the previously reported nine cases exhibiting epilepsy as associated feature, we detected that epilepsy onset is mostly during infancy (1-4 years of age), with both focal and generalized seizures. EEGs reveal that epileptic abnormalities mainly are localized in the frontal regions, and seizure control might be reached with one or multiple antiepileptic drugs. Besides dysmorphic features and other comorbidities (microcephaly, intellectual disability, absent speech, sensorineural hearing loss, and autistic spectrum disorder) major brain MR features include cortical and cerebellar atrophy, delayed myelination, and brainstem hypoplasia. Although the small number of patients reported, we were able to delineate primary electroclinical epileptic phenotype related to POGZ mutations. This would be crucial for an early identification and management of the condition.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Transposasas / Epilepsia / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Transposasas / Epilepsia / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos