Details

Autor(en) / Beteiligte

• Vlaskamp, Danique R M
• Shaw, Benjamin J
• Burgess, Rosemary
• Mei, Davide
• Montomoli, Martino
• Xie, Han
• Myers, Candace T
• Bennett, Mark F
• XiangWei, Wenshu
• Williams, Danielle
• Maas, Saskia M
• Brooks, Alice S
• Mancini, Grazia M S
• van de Laar, Ingrid M B H
• van Hagen, Johanna M
• Ware, Tyson L
• Webster, Richard I
• Malone, Stephen
• Berkovic, Samuel F
• Kalnins, Renate M
• Sicca, Federico
• Korenke, G Christoph
• van Ravenswaaij-Arts, Conny M A
• Hildebrand, Michael S
• Mefford, Heather C
• Jiang, Yuwu
• Guerrini, Renzo
• Scheffer, Ingrid E

Titel

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Ist Teil von

• Neurology, 2019-01, Vol.92 (2), p.e96

Ort / Verlag

United States

Erscheinungsjahr

2019

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort. Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21.32 microdeletions incorporating . We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos. We included 57 patients (53% male, median age 8 years) with mutations (n = 53) or microdeletions (n = 4). Of the 57 patients, 56 had epilepsy: generalized in 55, with focal seizures in 7 and infantile spasms in 1. Median seizure onset age was 2 years. A novel type of drop attack was identified comprising eyelid myoclonia evolving to a myoclonic-atonic (n = 5) or atonic (n = 8) seizure. Seizure types included eyelid myoclonia with absences (65%), myoclonic seizures (34%), atypical (20%) and typical (18%) absences, and atonic seizures (14%), triggered by eating in 25%. Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic encephalopathy (DEE). Fifty-five of 57 patients had intellectual disability, which was moderate to severe in 50. Other common features included behavioral problems (73%); high pain threshold (72%); eating problems, including oral aversion (68%); hypotonia (67%); sleeping problems (62%); autism spectrum disorder (54%); and ataxia or gait abnormalities (51%). mutations cause a generalized DEE with a distinctive syndrome combining epilepsy with eyelid myoclonia with absences and myoclonic-atonic seizures, as well as a predilection to seizures triggered by eating.