SYNGAP1-DEE: A visual sensitive epilepsy

Author:

Lo Barco Tommaso,Kaminska Anna,Solazzi Roberta,Cancés Claude,Barcia Giulia,Chemaly Nicole,Fontana Elena,Desguerre Isabelle,Canafoglia Laura,Hachon Le Camus Caroline,Losito Emma,Villard Laurent,Eisermann Monika,Dalla Bernardina Bernardo,Villeneuve Nathalie,Nabbout Rima

Publisher

Elsevier BV

Subject

Physiology (medical),Neurology (clinical),Neurology,Sensory Systems

Reference40 articles.

1. Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly;Aceti;Biol Psychiatry,2015

2. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency;Berryer;Hum Mutat,2013

3. Genomic diagnosis for children with intellectual disability and/or developmental delay;Bowling;Genome Med,2017

4. Cantalupo G, Tassinari CA, Dalla Bernardina B. Epilepsy with myoclonic absences and epilepsy with eyelid myoclonia and absences. In: Douglas R. Nordli, Jr. M, John M. Pellock M, Raman Sankar, MD P, James W. Wheless M, editors. Pellock’s pediatric epilepsy: diagnosis and therapy. Demos Medical Publishing; 2016. p. 321–34.

5. A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome?;Caraballo;Seizure,2009

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