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

Celina von Stülpnagel, Till Hartlieb, Ingo Borggräfe, Antonietta Coppola, Elena Gennaro, Kirsten Eschermann, Lorenz Kiwull, Felicitas Kluger, Ilona Krois, Rikke S Møller, Franziska Rössler, Lia Santulli, Constanze Schwermer, Barbara Wallacher-Scholz, Federico Zara, Peter Wolf, Gerhard Kluger

Publikation: Bidrag til tidsskriftReviewForskningpeer review

Resumé

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.

OriginalsprogEngelsk
TidsskriftSeizure
Vol/bind65
Sider (fra-til)131-137
ISSN1059-1311
DOI
StatusUdgivet - feb. 2019

Fingeraftryk

Reflex Epilepsy
Mastication
Pediatrics
Mutation
Eyelids
Electroencephalography

Citer dette

Stülpnagel, Celina von ; Hartlieb, Till ; Borggräfe, Ingo ; Coppola, Antonietta ; Gennaro, Elena ; Eschermann, Kirsten ; Kiwull, Lorenz ; Kluger, Felicitas ; Krois, Ilona ; Møller, Rikke S ; Rössler, Franziska ; Santulli, Lia ; Schwermer, Constanze ; Wallacher-Scholz, Barbara ; Zara, Federico ; Wolf, Peter ; Kluger, Gerhard. / 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. I: Seizure. 2019 ; Bind 65. s. 131-137.
@article{f42be09972f44dd89585d21bb5a06831,
title = "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",
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",
author = "St{\"u}lpnagel, {Celina von} and Till Hartlieb and Ingo Borggr{\"a}fe and Antonietta Coppola and Elena Gennaro and Kirsten Eschermann and Lorenz Kiwull and Felicitas Kluger and Ilona Krois and M{\o}ller, {Rikke S} and Franziska R{\"o}ssler and Lia Santulli and Constanze Schwermer and Barbara Wallacher-Scholz and Federico Zara and Peter Wolf and Gerhard Kluger",
note = "Copyright {\circledC} 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.",
year = "2019",
month = "2",
doi = "10.1016/j.seizure.2018.12.020",
language = "English",
volume = "65",
pages = "131--137",
journal = "Seizure - European Journal of Epilepsy",
issn = "1059-1311",
publisher = "Elsevier",

}

Stülpnagel, CV, Hartlieb, T, Borggräfe, I, Coppola, A, Gennaro, E, Eschermann, K, Kiwull, L, Kluger, F, Krois, I, Møller, RS, Rössler, F, Santulli, L, Schwermer, C, Wallacher-Scholz, B, Zara, F, Wolf, P & Kluger, G 2019, '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', Seizure, bind 65, s. 131-137. https://doi.org/10.1016/j.seizure.2018.12.020

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. / Stülpnagel, Celina von; Hartlieb, Till; Borggräfe, Ingo; Coppola, Antonietta; Gennaro, Elena; Eschermann, Kirsten; Kiwull, Lorenz; Kluger, Felicitas; Krois, Ilona; Møller, Rikke S; Rössler, Franziska; Santulli, Lia; Schwermer, Constanze; Wallacher-Scholz, Barbara; Zara, Federico; Wolf, Peter; Kluger, Gerhard.

I: Seizure, Bind 65, 02.2019, s. 131-137.

Publikation: Bidrag til tidsskriftReviewForskningpeer review

TY - JOUR

T1 - Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations

T2 - Review of literature and report of 8 cases

AU - Stülpnagel, Celina von

AU - Hartlieb, Till

AU - Borggräfe, Ingo

AU - Coppola, Antonietta

AU - Gennaro, Elena

AU - Eschermann, Kirsten

AU - Kiwull, Lorenz

AU - Kluger, Felicitas

AU - Krois, Ilona

AU - Møller, Rikke S

AU - Rössler, Franziska

AU - Santulli, Lia

AU - Schwermer, Constanze

AU - Wallacher-Scholz, Barbara

AU - Zara, Federico

AU - Wolf, Peter

AU - Kluger, Gerhard

N1 - Copyright © 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

PY - 2019/2

Y1 - 2019/2

N2 - 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.

AB - 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.

KW - Eating epilepsy

KW - Eye closure sensitivity

KW - Reflex epilepsy

KW - SYNGAP1

KW - Triggers eating and chewing

U2 - 10.1016/j.seizure.2018.12.020

DO - 10.1016/j.seizure.2018.12.020

M3 - Review

VL - 65

SP - 131

EP - 137

JO - Seizure - European Journal of Epilepsy

JF - Seizure - European Journal of Epilepsy

SN - 1059-1311

ER -