Genetics of reflex seizures and epilepsies in humans and animals

Domenico Italiano, Pasquale Striano, Emilio Russo, Antonio Leo, Edoardo Spina, Federico Zara, Salvatore Striano, Antonio Gambardella, Angelo Labate, Sara Gasparini, Marco Lamberti, Giovambattista De Sarro, Umberto Aguglia, Edoardo Ferlazzo

Research output: Contribution to journalArticle

Abstract

Introduction: Reflex seizures are epileptic events triggered by specific motor, sensory or cognitive stimulation. This comprehensive narrative review focuses on the role of genetic determinants in humans and animal models of reflex seizures and epilepsies. Methods: References were mainly identified through MEDLINE searches until August 2015 and backtracking of references in pertinent studies. Results: Autosomal dominant inheritance with reduced penetrance was proven in several families with photosensitivity. Molecular genetic studies on EEG photoparoxysmal response identified putative loci on chromosomes 6, 7, 13 and 16 that seem to correlate with peculiar seizure phenotype. No specific mutation has been found in Papio papio baboon, although a genetic etiology is likely. Mutation in synaptic vesicle glycoprotein 2A was found in another animal model of photosensitivity (Fayoumi chickens). Autosomal dominant inheritance with incomplete penetrance overlapping with a genetic background for IGE was proposed for some families with primary reading epilepsy. Musicogenic seizures usually occur in patients with focal symptomatic or cryptogenic epilepsies, but they have been reported in rare genetic epilepsies such as Dravet syndrome. A single LGI1 mutation has been described in a girl with seizures evoked by auditory stimuli. Interestingly, heterozygous knockout (Lgi1+/-) mice show susceptibility to sound-triggered seizures. Moreover, in Frings and Black Swiss mice, the spontaneous mutations of MASS1 and JAMS1 genes, respectively, have been linked to audiogenic seizures. Eating seizures usually occur in symptomatic epilepsies but evidences for a genetic susceptibility were mainly provided by family report from Sri Lanka. Eating seizures were also reported in rare patients with MECP2 duplication or mutation. Hot water seizures are genetically heterogeneous but two loci at chromosomes 4 and 10 were identified in families with likely autosomal dominant inheritance. Startle-induced seizures usually occur in patients with symptomatic epilepsies but have also been reported in the setting chromosomal disorders or genetically inherited lysosomal storage diseases. Discussion: The genetic background of reflex seizures and epilepsies is heterogeneous and mostly unknown with no major gene identified in humans. The benefits offered by next-generation sequencing technologies should be merged with increasing information on animal models that represent an useful tool to study the mechanism underlying epileptogenesis. Finally, we expect that genetic studies will lead to a better understanding of the multiple factors involved in the pathophysiology of reflex seizures, and eventually to develop preventive strategies focused on seizure control and therapy optimization.

Original languageEnglish
Pages (from-to)47-54
Number of pages8
JournalEpilepsy Research
Volume121
DOIs
Publication statusPublished - Mar 1 2016

Fingerprint

Reflex Epilepsy
Seizures
Epilepsy
Mutation
Animal Models
Penetrance
Reflex
Papio papio
Eating
Chromosome Disorders
Myoclonic Epilepsy
Lysosomal Storage Diseases
Chromosomes, Human, Pair 16
Sri Lanka
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 7
Partial Epilepsy
Papio

Keywords

  • Eating
  • Genes
  • Music
  • Photosensitivity
  • Reading
  • Startle

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Genetics of reflex seizures and epilepsies in humans and animals. / Italiano, Domenico; Striano, Pasquale; Russo, Emilio; Leo, Antonio; Spina, Edoardo; Zara, Federico; Striano, Salvatore; Gambardella, Antonio; Labate, Angelo; Gasparini, Sara; Lamberti, Marco; De Sarro, Giovambattista; Aguglia, Umberto; Ferlazzo, Edoardo.

In: Epilepsy Research, Vol. 121, 01.03.2016, p. 47-54.

Research output: Contribution to journalArticle

Italiano, D, Striano, P, Russo, E, Leo, A, Spina, E, Zara, F, Striano, S, Gambardella, A, Labate, A, Gasparini, S, Lamberti, M, De Sarro, G, Aguglia, U & Ferlazzo, E 2016, 'Genetics of reflex seizures and epilepsies in humans and animals', Epilepsy Research, vol. 121, pp. 47-54. https://doi.org/10.1016/j.eplepsyres.2016.01.010
Italiano, Domenico ; Striano, Pasquale ; Russo, Emilio ; Leo, Antonio ; Spina, Edoardo ; Zara, Federico ; Striano, Salvatore ; Gambardella, Antonio ; Labate, Angelo ; Gasparini, Sara ; Lamberti, Marco ; De Sarro, Giovambattista ; Aguglia, Umberto ; Ferlazzo, Edoardo. / Genetics of reflex seizures and epilepsies in humans and animals. In: Epilepsy Research. 2016 ; Vol. 121. pp. 47-54.
@article{bb42acb13c744c65b333f949589dc934,
title = "Genetics of reflex seizures and epilepsies in humans and animals",
abstract = "Introduction: Reflex seizures are epileptic events triggered by specific motor, sensory or cognitive stimulation. This comprehensive narrative review focuses on the role of genetic determinants in humans and animal models of reflex seizures and epilepsies. Methods: References were mainly identified through MEDLINE searches until August 2015 and backtracking of references in pertinent studies. Results: Autosomal dominant inheritance with reduced penetrance was proven in several families with photosensitivity. Molecular genetic studies on EEG photoparoxysmal response identified putative loci on chromosomes 6, 7, 13 and 16 that seem to correlate with peculiar seizure phenotype. No specific mutation has been found in Papio papio baboon, although a genetic etiology is likely. Mutation in synaptic vesicle glycoprotein 2A was found in another animal model of photosensitivity (Fayoumi chickens). Autosomal dominant inheritance with incomplete penetrance overlapping with a genetic background for IGE was proposed for some families with primary reading epilepsy. Musicogenic seizures usually occur in patients with focal symptomatic or cryptogenic epilepsies, but they have been reported in rare genetic epilepsies such as Dravet syndrome. A single LGI1 mutation has been described in a girl with seizures evoked by auditory stimuli. Interestingly, heterozygous knockout (Lgi1+/-) mice show susceptibility to sound-triggered seizures. Moreover, in Frings and Black Swiss mice, the spontaneous mutations of MASS1 and JAMS1 genes, respectively, have been linked to audiogenic seizures. Eating seizures usually occur in symptomatic epilepsies but evidences for a genetic susceptibility were mainly provided by family report from Sri Lanka. Eating seizures were also reported in rare patients with MECP2 duplication or mutation. Hot water seizures are genetically heterogeneous but two loci at chromosomes 4 and 10 were identified in families with likely autosomal dominant inheritance. Startle-induced seizures usually occur in patients with symptomatic epilepsies but have also been reported in the setting chromosomal disorders or genetically inherited lysosomal storage diseases. Discussion: The genetic background of reflex seizures and epilepsies is heterogeneous and mostly unknown with no major gene identified in humans. The benefits offered by next-generation sequencing technologies should be merged with increasing information on animal models that represent an useful tool to study the mechanism underlying epileptogenesis. Finally, we expect that genetic studies will lead to a better understanding of the multiple factors involved in the pathophysiology of reflex seizures, and eventually to develop preventive strategies focused on seizure control and therapy optimization.",
keywords = "Eating, Genes, Music, Photosensitivity, Reading, Startle",
author = "Domenico Italiano and Pasquale Striano and Emilio Russo and Antonio Leo and Edoardo Spina and Federico Zara and Salvatore Striano and Antonio Gambardella and Angelo Labate and Sara Gasparini and Marco Lamberti and {De Sarro}, Giovambattista and Umberto Aguglia and Edoardo Ferlazzo",
year = "2016",
month = "3",
day = "1",
doi = "10.1016/j.eplepsyres.2016.01.010",
language = "English",
volume = "121",
pages = "47--54",
journal = "Epilepsy Research",
issn = "0920-1211",
publisher = "Elsevier",

}

TY - JOUR

T1 - Genetics of reflex seizures and epilepsies in humans and animals

AU - Italiano, Domenico

AU - Striano, Pasquale

AU - Russo, Emilio

AU - Leo, Antonio

AU - Spina, Edoardo

AU - Zara, Federico

AU - Striano, Salvatore

AU - Gambardella, Antonio

AU - Labate, Angelo

AU - Gasparini, Sara

AU - Lamberti, Marco

AU - De Sarro, Giovambattista

AU - Aguglia, Umberto

AU - Ferlazzo, Edoardo

PY - 2016/3/1

Y1 - 2016/3/1

N2 - Introduction: Reflex seizures are epileptic events triggered by specific motor, sensory or cognitive stimulation. This comprehensive narrative review focuses on the role of genetic determinants in humans and animal models of reflex seizures and epilepsies. Methods: References were mainly identified through MEDLINE searches until August 2015 and backtracking of references in pertinent studies. Results: Autosomal dominant inheritance with reduced penetrance was proven in several families with photosensitivity. Molecular genetic studies on EEG photoparoxysmal response identified putative loci on chromosomes 6, 7, 13 and 16 that seem to correlate with peculiar seizure phenotype. No specific mutation has been found in Papio papio baboon, although a genetic etiology is likely. Mutation in synaptic vesicle glycoprotein 2A was found in another animal model of photosensitivity (Fayoumi chickens). Autosomal dominant inheritance with incomplete penetrance overlapping with a genetic background for IGE was proposed for some families with primary reading epilepsy. Musicogenic seizures usually occur in patients with focal symptomatic or cryptogenic epilepsies, but they have been reported in rare genetic epilepsies such as Dravet syndrome. A single LGI1 mutation has been described in a girl with seizures evoked by auditory stimuli. Interestingly, heterozygous knockout (Lgi1+/-) mice show susceptibility to sound-triggered seizures. Moreover, in Frings and Black Swiss mice, the spontaneous mutations of MASS1 and JAMS1 genes, respectively, have been linked to audiogenic seizures. Eating seizures usually occur in symptomatic epilepsies but evidences for a genetic susceptibility were mainly provided by family report from Sri Lanka. Eating seizures were also reported in rare patients with MECP2 duplication or mutation. Hot water seizures are genetically heterogeneous but two loci at chromosomes 4 and 10 were identified in families with likely autosomal dominant inheritance. Startle-induced seizures usually occur in patients with symptomatic epilepsies but have also been reported in the setting chromosomal disorders or genetically inherited lysosomal storage diseases. Discussion: The genetic background of reflex seizures and epilepsies is heterogeneous and mostly unknown with no major gene identified in humans. The benefits offered by next-generation sequencing technologies should be merged with increasing information on animal models that represent an useful tool to study the mechanism underlying epileptogenesis. Finally, we expect that genetic studies will lead to a better understanding of the multiple factors involved in the pathophysiology of reflex seizures, and eventually to develop preventive strategies focused on seizure control and therapy optimization.

AB - Introduction: Reflex seizures are epileptic events triggered by specific motor, sensory or cognitive stimulation. This comprehensive narrative review focuses on the role of genetic determinants in humans and animal models of reflex seizures and epilepsies. Methods: References were mainly identified through MEDLINE searches until August 2015 and backtracking of references in pertinent studies. Results: Autosomal dominant inheritance with reduced penetrance was proven in several families with photosensitivity. Molecular genetic studies on EEG photoparoxysmal response identified putative loci on chromosomes 6, 7, 13 and 16 that seem to correlate with peculiar seizure phenotype. No specific mutation has been found in Papio papio baboon, although a genetic etiology is likely. Mutation in synaptic vesicle glycoprotein 2A was found in another animal model of photosensitivity (Fayoumi chickens). Autosomal dominant inheritance with incomplete penetrance overlapping with a genetic background for IGE was proposed for some families with primary reading epilepsy. Musicogenic seizures usually occur in patients with focal symptomatic or cryptogenic epilepsies, but they have been reported in rare genetic epilepsies such as Dravet syndrome. A single LGI1 mutation has been described in a girl with seizures evoked by auditory stimuli. Interestingly, heterozygous knockout (Lgi1+/-) mice show susceptibility to sound-triggered seizures. Moreover, in Frings and Black Swiss mice, the spontaneous mutations of MASS1 and JAMS1 genes, respectively, have been linked to audiogenic seizures. Eating seizures usually occur in symptomatic epilepsies but evidences for a genetic susceptibility were mainly provided by family report from Sri Lanka. Eating seizures were also reported in rare patients with MECP2 duplication or mutation. Hot water seizures are genetically heterogeneous but two loci at chromosomes 4 and 10 were identified in families with likely autosomal dominant inheritance. Startle-induced seizures usually occur in patients with symptomatic epilepsies but have also been reported in the setting chromosomal disorders or genetically inherited lysosomal storage diseases. Discussion: The genetic background of reflex seizures and epilepsies is heterogeneous and mostly unknown with no major gene identified in humans. The benefits offered by next-generation sequencing technologies should be merged with increasing information on animal models that represent an useful tool to study the mechanism underlying epileptogenesis. Finally, we expect that genetic studies will lead to a better understanding of the multiple factors involved in the pathophysiology of reflex seizures, and eventually to develop preventive strategies focused on seizure control and therapy optimization.

KW - Eating

KW - Genes

KW - Music

KW - Photosensitivity

KW - Reading

KW - Startle

UR - http://www.scopus.com/inward/record.url?scp=84965130347&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84965130347&partnerID=8YFLogxK

U2 - 10.1016/j.eplepsyres.2016.01.010

DO - 10.1016/j.eplepsyres.2016.01.010

M3 - Article

AN - SCOPUS:84965130347

VL - 121

SP - 47

EP - 54

JO - Epilepsy Research

JF - Epilepsy Research

SN - 0920-1211

ER -