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Focal epilepsy due to de novo SCN1A mutation
Author(s) -
Laur Domitille,
DozièresPuyravel Blandine,
Iléa Adina,
Nava Caroline,
Delanoë Catherine,
Nasser Hala,
Le Guern Eric,
Auvin Stéphane
Publication year - 2021
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2021.1285
Subject(s) - epilepsy , medicine , pediatrics , epilepsy surgery , psychomotor learning , intellectual disability , neurology , retrospective cohort study , pathology , cognition , psychiatry
Objective . Our aim was to identify patients with SCN1A ‐related epilepsy with a phenotype of pure focal epilepsy. Methods . We conducted a retrospective study and a systematic review in Pubmed to identify patients with focal epilepsy associated with SCN1A pathogenic variants. Results . We found three patients among 1,191 in our rare epilepsy database in 2017. The literature search from January 2000 to September 2019 led to identification of four patients with limited data. Our three patients had a common phenotype with focal‐onset seizures as the only seizure type. All patients showed normal psychomotor development in the first years of life, and no intellectual disability although they displayed some cognitive or behavioural problems. Fever or hyperthermia were triggers in all three patients. In addition, all had a history of brief recurrent febrile seizures in their first year, followed by a phenotype of pharmacoresistant focal epilepsy with normal brain imaging. Two of them were initially investigated for epilepsy surgery. Seizure precipitation by fever has also been reported in previously published patients. Significance . Focal epilepsy associated with SCN1A gene mutation should be recognized in patients with suggestive features, in particular among surgical candidates.