Refractory epilepsy in Norrie disease

Neurol Sci. 2018 Sep;39(9):1631-1633. doi: 10.1007/s10072-018-3428-9. Epub 2018 May 3.

Authors

Gonçalo Cação¹, Cristina Garrido², Vasco Miranda³, Jorge Pinto-Basto⁴, João Chaves⁵, Rui Chorão⁶

Affiliations

¹ Neurology Department, Hospital de Santo António, Centro Hospitalar do Porto, 4099-001, Porto, Portugal. goncalo.cacao@gmail.com.
² Pediatrics Department, Centro Materno Infantil do Norte, Centro Hospitalar do Porto, Porto, Portugal.
³ Ophtalmology Department, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.
⁴ CGC Genetics, Porto, Portugal.
⁵ Neurology Department, Hospital de Santo António, Centro Hospitalar do Porto, 4099-001, Porto, Portugal.
⁶ Neurophisiology Departement, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.

PMID: 29725776
DOI: 10.1007/s10072-018-3428-9

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Blindness / complications
Blindness / congenital*
Blindness / diagnosis
Blindness / physiopathology
Blindness / therapy
Drug Resistant Epilepsy / diagnosis
Drug Resistant Epilepsy / etiology*
Drug Resistant Epilepsy / physiopathology
Drug Resistant Epilepsy / therapy
Eye Proteins / genetics
Genetic Diseases, X-Linked / complications*
Genetic Diseases, X-Linked / diagnosis
Genetic Diseases, X-Linked / physiopathology
Genetic Diseases, X-Linked / therapy
Humans
Male
Nerve Tissue Proteins / genetics
Nervous System Diseases / complications*
Nervous System Diseases / diagnosis
Nervous System Diseases / physiopathology
Nervous System Diseases / therapy
Retinal Degeneration / complications*
Retinal Degeneration / diagnosis
Retinal Degeneration / physiopathology
Retinal Degeneration / therapy
Sequence Deletion
Siblings
Spasms, Infantile / complications*
Spasms, Infantile / diagnosis
Spasms, Infantile / physiopathology
Spasms, Infantile / therapy

Substances

Eye Proteins
NDP protein, human
Nerve Tissue Proteins

Supplementary concepts

Norrie disease