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Seizure. 2019 Feb;65:131-137. doi: 10.1016/j.seizure.2018.12.020. Epub 2018 Dec 22.

Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.

Author information

1
Comprehensive Epilepsy Program for Children, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, University Hospital Munich, Lindwurmstr. 3, 80337 Munich, Germany; Paracelsus Medical University, Strubergasse 21, 5020 Salzburg, Austria. Electronic address: cvstuelpnagel@steinbeis.co.
2
Paracelsus Medical University, Strubergasse 21, 5020 Salzburg, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Krankenhausstr. 20, 83569 Vogtareuth, Germany.
3
Comprehensive Epilepsy Program for Children, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, University Hospital Munich, Lindwurmstr. 3, 80337 Munich, Germany.
4
Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University Building 17, Via Pansini 5, 80131 Naples, Italy.
5
Genetic Laboratory, E.O. Ospedali Galliera, Via Volta 6, 16128 Genova, Italy.
6
Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Krankenhausstr. 20, 83569 Vogtareuth, Germany.
7
Helios Klinikum Krefeld, Sozialpädiatrisches Zentrum, Zentrum für Kinder- und Jugendmedizin, Lutherplatz 40, 47805 Krefeld, Germany.
8
The Danish Epilepsy Centre, Filadelfia, Department of Epilepsy Genetics, Kolonivej 1, 4293 Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Winsløwparken 19, 3, 5000 Odense, Denmark.
9
Schweizerische Epilepsie Klinik, Klinik Lengg AG, Bleulerstrasse 60, 8008 Zürich, Switzerland.
10
Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Integrated Social Pediatric Centre of the Dr. von Haunersche Kinderspital, University Hospital Munich, Lindwurmstr. 3, 80337 Munich, Germany.
11
Laboratorio di Neurogenetica, Istituto G. Gaslini, Largo G. Gaslini 5; 16147 Genova, Italy.
12
The Danish Epilepsy Centre, Filadelfia, Department of Epilepsy Genetics, Kolonivej 1, 4293 Dianalund, Denmark; Programa de Pós-Graduação em Ciências Médicas, Universidad Federal de Santa Catarina, Florianópolis, SC, Brazil.

Abstract

PURPOSE:

Heterozygous SYNGAP1 gene mutations have been associated with several forms of idiopathic generalized epilepsy, autism spectrum disorders and delay of psychomotor development. We report eight patients with a SYNGAP1 mutation and chewing/eating induced reflex seizures as new phenotype and compare them to other patients with eating epilepsy and genetic mutations.

METHODS:

Presentation of clinical and anamnestic features and retrospective analysis of Video-EEG data of a 4 year old index patient with SYNGAP1 mutation and chewing /eating induced seizures. Clinical and anamnestic features and home videos of seven additional patients (4 female; age: 4-14 years) with SYNGAP1 mutation and eating induced reflex seizures were compared.

RESULTS:

All reflex seizures of the index patient showed similar focal EEG pattern with 1-5 seconds high amplitude, irregular 3/sec spike-wave complexes with initiation from left temporo-occipital, right temporo-occipital or bi- occipital / temporo-occipital regions. Eyelid myoclonia, the most common seizure type in all 8 patients, were typically initiated by eating or other simple orofacial stimuli. In the index patient eye closure preceded eating induced-eyelid myoclonia in 30/38 seizures.

CONCLUSION:

The main clinical features of our patient (i.e. intellectual disability, epilepsy, autistic features) are compatible with previous reports on patients with SYNGAP1 mutations. This is the first complete description of eating induced seizures in association with SYNGAP1 mutations. Whether eye closure sensitivity (ECS) represents an independent reflex epileptic trait, as seen in other patients with idiopathic "generalized" epilepsies (IGE), or eye closure is part of a complex trigger mechanism in SYNGAP1 patients' remains to be elucidated.

KEYWORDS:

Eating epilepsy; Eye closure sensitivity; Reflex epilepsy; SYNGAP1; Triggers eating and chewing

PMID:
30685520
DOI:
10.1016/j.seizure.2018.12.020
[Indexed for MEDLINE]

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