Electroclinical Findings of
Early-onset epilepsy
SYNJ1
SYNJ1 dual phosphatase activity
neurodegenerative disorder
recessive disorder
Journal
Journal of pediatric neurosciences
ISSN: 1817-1745
Titre abrégé: J Pediatr Neurosci
Pays: India
ID NLM: 101273794
Informations de publication
Date de publication:
Historique:
received:
22
01
2019
revised:
10
06
2019
accepted:
18
11
2019
entrez:
22
5
2020
pubmed:
22
5
2020
medline:
22
5
2020
Statut:
ppublish
Résumé
Early-onset epileptic encephalopathies are among the most severe early-onset epilepsies, leading to progressive neurodegeneration. An increasing number of novel genetic causes continue to be uncovered as the primary etiology. We report a girl infant of Semitic (Saudi Arabian) descent who presented with multifocal seizures and later developed intractable infantile spasms and myoclonic seizures. Her clinical features and electroencephalography were consistent with early-onset epileptic encephalopathy. Whole exome sequence analysis showed homozygous novel pathogenic variant (variant p.Q287PfsX27; coding DNA c.858_862delACAAA) in the SYNJ1 gene. This is a newly described early-onset epileptic encephalopathy secondary to a critical reduction of the dual phosphatase activity of
Identifiants
pubmed: 32435303
doi: 10.4103/JPN.JPN_10_19
pii: JPN-15-29
pmc: PMC7227754
doi:
Types de publication
Case Reports
Langues
eng
Pagination
29-33Informations de copyright
Copyright: © 2020 Journal of Pediatric Neurosciences.
Déclaration de conflit d'intérêts
There are no conflicts of interest.
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