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Article ; Online: A de novo pathogenic variant in MICAL-1 causes epilepsy with auditory features.

Bonanni, Paolo / Giorda, Roberto / Michelucci, Roberto / Nobile, Carlo / Dazzo, Emanuela

Epilepsia open

2024

Abstract: Familial epilepsy with auditory features (FEAF), previously known as autosomal-dominant lateral temporal lobe epilepsy (ADLTE) is a genetically heterogeneous syndrome, clinically characterized by focal seizures with prominent auditory symptoms. It is ... ...

Abstract	Familial epilepsy with auditory features (FEAF), previously known as autosomal-dominant lateral temporal lobe epilepsy (ADLTE) is a genetically heterogeneous syndrome, clinically characterized by focal seizures with prominent auditory symptoms. It is inherited with autosomal-dominant pattern with reduced penetrance (about 70%). Sporadic epilepsy with auditory features cases are more frequent and clinically indistinguishable from familial cases. One causal gene, MICAL-1, encodes MICAL-1, an intracellular multi-domain enzyme that is an important regulator of filamentous actin (F-actin) structures. Pathogenic variants in MICAL-1 account for approximately 7% of FEAF families. Here, we describe a de novo MICAL-1 pathogenic variant, p.Arg915Cys, in a sporadic case, an affected 21-year-old Italian man with no family history of epilepsy. Genetic testing was performed in the patient and his parents, using a next-generation sequencing panel. In cell-based assay, this variant significantly increased MICAL-1 oxidoreductase activity, which likely resulted in dysregulation of F-actin organization. This finding provides further support for a gain-of-function effect underlying MICAL-1-mediated epilepsy pathogenesis, as previously seen with other pathogenic variants. Furthermore, the case study provides evidence that de novo MICAL-1 pathogenic variants can occur in sporadic cases with epilepsy with auditory feature (EAF). PLAIN LANGUAGE SUMMARY: In this study, we report a new MICAL-1 pathogenic variant in a patient without family history for epilepsy, not inherited from his parents. MICAL-1 is a protein with enzymatic activity that reorganizes the structure of the cell. We proved the pathological effect of this variant by testing its enzymatic activity and found an increase of this activity. This result suggests that non-familial cases should be tested to find novel pathogenic variants in this gene.
Language	English
Publishing date	2024-04-23
Publishing country	United States
Document type	Journal Article
ISSN	2470-9239
ISSN (online)	2470-9239
DOI	10.1002/epi4.12937
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Article ; Online: Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins.

Dazzo, Emanuela / Nobile, Carlo

Human molecular genetics

2021 Volume 31, Issue 5, Page(s) 665–673

Abstract: Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetically heterogeneous neurologic disorder clinically characterized by focal seizures with auditory symptoms and/or aphasia. About 20% of ADLTE families segregate disease-causing heterozygous ... ...

Abstract	Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetically heterogeneous neurologic disorder clinically characterized by focal seizures with auditory symptoms and/or aphasia. About 20% of ADLTE families segregate disease-causing heterozygous mutations in RELN, a brain-expressed gene encoding the secreted protein Reelin. Using a cell-based secretion assay, we show that pathogenic RELN mutations abolish or significantly reduce secretion of mutant proteins and that this secretion defect results from impaired trafficking of mutant Reelin along the secretory pathway. Confocal immunofluorescence analysis of transiently transfected cells shows that Reelin mutant proteins are degraded by the autophagy system, as revealed by increased formation of autophagosomes immunoreacting with the autophagy markers p62 and LC3. In addition, LC3 immunoblotting shows a significant increase of autophagy flux due to mutant overexpression. Finally, we show that the secretion defect of mutant proteins can be partially rescued by small-molecule correctors. Altogether, these results suggest that Reelin mutant proteins are not properly secreted and that they are degraded through the autophagy pathway.
MeSH term(s)	Epilepsy, Temporal Lobe/genetics ; Humans ; Mutant Proteins/genetics ; Mutation ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Reelin Protein ; Serine Proteases/genetics
Chemical Substances	Mutant Proteins ; Nerve Tissue Proteins ; Reelin Protein ; Serine Proteases (EC 3.4.-)
Language	English
Publishing date	2021-09-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddab271
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Article ; Online: Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.

Annals of neurology

2023 Volume 94, Issue 5, Page(s) 825–835

Abstract: Objective: Familial mesial temporal lobe epilepsy (FMTLE) is an important focal epilepsy syndrome; its molecular genetic basis is unknown. Clinical descriptions of FMTLE vary between a mild syndrome with prominent déjà vu to a more severe phenotype with ...

Abstract	Objective: Familial mesial temporal lobe epilepsy (FMTLE) is an important focal epilepsy syndrome; its molecular genetic basis is unknown. Clinical descriptions of FMTLE vary between a mild syndrome with prominent déjà vu to a more severe phenotype with febrile seizures and hippocampal sclerosis. We aimed to refine the phenotype of FMTLE by analyzing a large cohort of patients and asked whether common risk variants for focal epilepsy and/or febrile seizures, measured by polygenic risk scores (PRS), are enriched in individuals with FMTLE. Methods: We studied 134 families with ≥ 2 first or second-degree relatives with temporal lobe epilepsy, with clear mesial ictal semiology required in at least one individual. PRS were calculated for 227 FMTLE cases, 124 unaffected relatives, and 16,077 population controls. Results: The age of patients with FMTLE onset ranged from 2.5 to 70 years (median = 18, interquartile range = 13-28 years). The most common focal seizure symptom was déjà vu (62% of cases), followed by epigastric rising sensation (34%), and fear or anxiety (22%). The clinical spectrum included rare cases with drug-resistance and/or hippocampal sclerosis. FMTLE cases had a higher mean focal epilepsy PRS than population controls (odds ratio = 1.24, 95% confidence interval = 1.06, 1.46, p = 0.007); in contrast, no enrichment for the febrile seizure PRS was observed. Interpretation: FMTLE is a generally mild drug-responsive syndrome with déjà vu being the commonest symptom. In contrast to dominant monogenic focal epilepsy syndromes, our molecular data support a polygenic basis for FMTLE. Furthermore, the PRS data suggest that sub-genome-wide significant focal epilepsy genome-wide association study single nucleotide polymorphisms are important risk variants for FMTLE. ANN NEUROL 2023;94:825-835.
MeSH term(s)	Humans ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Epilepsy, Temporal Lobe/genetics ; Epilepsy, Temporal Lobe/diagnosis ; Genome-Wide Association Study ; Seizures, Febrile/genetics ; Magnetic Resonance Imaging ; Electroencephalography ; Syndrome ; Hippocampus
Language	English
Publishing date	2023-08-31
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.26765
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Article ; Online: LGI1 tumor tissue expression and serum autoantibodies in patients with primary malignant glioma.

Dazzo, Emanuela / Pasini, Elena / Furlan, Sandra / de Biase, Dario / Martinoni, Matteo / Michelucci, Roberto / Nobile, Carlo

Clinical neurology and neurosurgery

2018 Volume 170, Page(s) 27–33

Abstract: Objectives: The Leucine-rich glioma inactivated 1 (LGI1) protein is thought to be implicated in malignant progression of glioma tumors, and mutations in the encoding gene, LGI1, cause autosomal dominant lateral temporal epilepsy, a genetic focal ... ...

Abstract	Objectives: The Leucine-rich glioma inactivated 1 (LGI1) protein is thought to be implicated in malignant progression of glioma tumors, and mutations in the encoding gene, LGI1, cause autosomal dominant lateral temporal epilepsy, a genetic focal epilepsy syndrome. The aim of this study was to investigate the possible involvement of LGI1 in high-grade glioma-associated epilepsy by analyzing its expression in tumor specimens of patients with and without epilepsy and by searching for LGI1 autoantibodies in the sera these patients. Patients and methods: We examined tumor tissue samples from 24 patients with high-grade gliomas (12 with and 12 without epilepsy) by immunoblot and detected variable amounts of LGI1 in tumor tissues from 9/24 (37%) patients. Results: LGI1 was detected in 7/12 (58%) patients with epilepsy and in 2/12 (16%) patients without epilepsy (p = 0.0894; Fisher's exact test). Moreover, testing blood sera of five patients for antibodies against LGI1 revealed LGI1 autoantibodies in two patients, both suffering from epilepsy and expressing LGI1 in tumor tissue. Conclusion: Our findings suggest that there may be a preferential expression of LGI1 in high-grade glioma tumors of patients with epilepsy. We also unveil the presence of serum LGI1 autoantibodies in some patients with high-grade gliomas, where they might play an epileptogenic role.
MeSH term(s)	Adult ; Aged ; Astrocytoma/blood ; Astrocytoma/diagnosis ; Astrocytoma/genetics ; Autoantibodies/blood ; Biomarkers, Tumor/blood ; Biomarkers, Tumor/genetics ; Brain Neoplasms/blood ; Brain Neoplasms/diagnosis ; Brain Neoplasms/genetics ; Epilepsy, Temporal Lobe/blood ; Epilepsy, Temporal Lobe/diagnosis ; Epilepsy, Temporal Lobe/genetics ; Female ; Gene Expression Regulation, Neoplastic ; Glioblastoma/blood ; Glioblastoma/diagnosis ; Glioblastoma/genetics ; Glioma/blood ; Glioma/diagnosis ; Glioma/genetics ; HEK293 Cells ; Humans ; Male ; Middle Aged ; Proteins/genetics ; Proteins/metabolism ; Young Adult
Chemical Substances	Autoantibodies ; Biomarkers, Tumor ; LGI1 protein, human ; Proteins
Language	English
Publishing date	2018-04-14
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	193107-6
ISSN	1872-6968 ; 0303-8467
ISSN (online)	1872-6968
ISSN	0303-8467
DOI	10.1016/j.clineuro.2018.04.010
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Article ; Online: Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation.

Michelucci, Roberto / Dazzo, Emanuela / Volpi, Lilia / Pasini, Elena / Riguzzi, Patrizia / Minardi, Raffaella / Marliani, Anna Federica / Tappatà, Maria / Bisulli, Francesca / Tassinari, Carlo Alberto / Nobile, Carlo

Epileptic disorders : international epilepsy journal with videotape

2020 Volume 22, Issue 4, Page(s) 443–448

Abstract: Reelin mutations are responsible for a minority of families with autosomal dominant lateral temporal lobe epilepsy. Here, we report a novel nuclear family with distinct clinical and neuroradiological findings. We studied the proband and her mother by ... ...

Abstract	Reelin mutations are responsible for a minority of families with autosomal dominant lateral temporal lobe epilepsy. Here, we report a novel nuclear family with distinct clinical and neuroradiological findings. We studied the proband and her mother by means of EEG, video-EEG, 3T MRI, FDG-PET and genetic testing. Both patients had a focal drug-resistant epilepsy with onset at the age of 16 and focal seizures with typical auditory features combined with fear, followed by loss of contact or evolving to bilateral tonic-clonic seizures. The proband's ictal EEG showed clear left temporal seizure onset, and cerebral MRI revealed subtle left temporal changes (mild hypotrophy, slight blurring of the white and grey matter and hyperintensity) with corresponding left temporal mesial focal hypometabolism on FDG-PET. Genetic testing identified a missense variant, c.6631C>T (p.Arg2211Cys), in reelin repeat #5 in both patients, which markedly affected the secretion of the protein. The data from this family support previous findings indicating that reelin mutations are a cause of autosomal dominant lateral temporal lobe epilepsy which has a clinical spectrum that may also encompass drug-resistant epilepsy associated with mild MRI temporal changes.
MeSH term(s)	Adult ; Aged ; Cell Adhesion Molecules, Neuronal/genetics ; Electroencephalography ; Epilepsy, Frontal Lobe/diagnosis ; Epilepsy, Frontal Lobe/genetics ; Epilepsy, Frontal Lobe/pathology ; Epilepsy, Frontal Lobe/physiopathology ; Extracellular Matrix Proteins/genetics ; Female ; Humans ; Magnetic Resonance Imaging ; Nerve Tissue Proteins/genetics ; Pedigree ; Serine Endopeptidases/genetics ; Sleep Wake Disorders/diagnosis ; Sleep Wake Disorders/genetics ; Sleep Wake Disorders/pathology ; Sleep Wake Disorders/physiopathology
Chemical Substances	Cell Adhesion Molecules, Neuronal ; Extracellular Matrix Proteins ; Nerve Tissue Proteins ; Serine Endopeptidases (EC 3.4.21.-) ; reelin protein (EC 3.4.21.-)
Language	English
Publishing date	2020-06-02
Publishing country	France
Document type	Case Reports ; Journal Article
ZDB-ID	2086797-9
ISSN	1950-6945 ; 1294-9361
ISSN (online)	1950-6945
ISSN	1294-9361
DOI	10.1684/epd.2020.1176
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Zs.A 5740: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.

Leonardi, Emanuela / Dazzo, Emanuela / Aspromonte, Maria Cristina / Tabaro, Francesco / Pascarelli, Stefano / Tosatto, Silvio C E / Michelucci, Roberto / Murgia, Alessandra / Nobile, Carlo

Epilepsy research

2017 Volume 139, Page(s) 51–53

Abstract: Autosomal dominant epilepsy with auditory features (ADEAF) is clinically characterized by focal seizures with prominent auditory or aphasic auras and absence of structural brain abnormalities. Mutations in LGI1 and RELN genes account for the disorder in ... ...

Abstract	Autosomal dominant epilepsy with auditory features (ADEAF) is clinically characterized by focal seizures with prominent auditory or aphasic auras and absence of structural brain abnormalities. Mutations in LGI1 and RELN genes account for the disorder in about 50% of ADEAF families. In a recent paper, a heterozygous intragenic deletion in the CNTNAP2 gene has been associated to ADEAF in a single family. We screened 28 ADEAF families for mutations in CNTNAP2 by next generation sequencing and copy number variation analyses and found no likely pathogenic mutations segregating with the disease. CNTNAP2 should be screened in genetically unsolved ADEAF families, but causative mutations are expected to be infrequent in this gene.
MeSH term(s)	DNA Copy Number Variations ; Epilepsy, Temporal Lobe/genetics ; Family ; Genetic Predisposition to Disease ; Humans ; Membrane Proteins/genetics ; Mutation ; Nerve Tissue Proteins/genetics
Chemical Substances	CNTNAP2 protein, human ; Membrane Proteins ; Nerve Tissue Proteins
Language	English
Publishing date	2017-11-21
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	632939-1
ISSN	1872-6844 ; 0920-1211
ISSN (online)	1872-6844
ISSN	0920-1211
DOI	10.1016/j.eplepsyres.2017.11.006
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Article ; Online: Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors.

Dazzo, Emanuela / Leonardi, Emanuela / Belluzzi, Elisa / Malacrida, Sandro / Vitiello, Libero / Greggio, Elisa / Tosatto, Silvio C E / Nobile, Carlo

PLoS genetics

2016 Volume 12, Issue 10, Page(s) e1006376

Abstract: Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused by mutations in the LGI1 gene, which encodes a secreted protein. Most ADLTE-causing mutations inhibit LGI1 protein secretion, and only a few secretion-positive ... ...

Abstract	Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused by mutations in the LGI1 gene, which encodes a secreted protein. Most ADLTE-causing mutations inhibit LGI1 protein secretion, and only a few secretion-positive missense mutations have been reported. Here we describe the effects of four disease-causing nonsynonymous LGI1 mutations, T380A, R407C, S473L, and R474Q, on protein secretion and extracellular interactions. Expression of LGI1 mutant proteins in cultured cells shows that these mutations do not inhibit protein secretion. This finding likely results from the lack of effects of these mutations on LGI1 protein folding, as suggested by 3D protein modelling. In addition, immunofluorescence and co-immunoprecipitation experiments reveal that all four mutations significantly impair interaction of LGI1 with the ADAM22 and ADAM23 receptors on the cell surface. These results support the existence of a second mechanism, alternative to inhibition of protein secretion, by which ADLTE-causing LGI1 mutations exert their loss-of-function effect extracellularly, and suggest that interactions of LGI1 with both ADAM22 and ADAM23 play an important role in the molecular mechanisms leading to ADLTE.
MeSH term(s)	ADAM Proteins/chemistry ; ADAM Proteins/genetics ; ADAM Proteins/metabolism ; Amino Acid Substitution/genetics ; Animals ; COS Cells ; Cell Membrane/genetics ; Cell Membrane/metabolism ; Chlorocebus aethiops ; Epilepsy, Frontal Lobe/genetics ; Epilepsy, Frontal Lobe/pathology ; Humans ; Intracellular Signaling Peptides and Proteins ; Mutation, Missense ; Nerve Tissue Proteins/chemistry ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Protein Conformation ; Protein Folding ; Protein Interaction Maps/genetics ; Proteins/chemistry ; Proteins/genetics ; Proteins/metabolism ; Sleep Wake Disorders/genetics ; Sleep Wake Disorders/pathology
Chemical Substances	Intracellular Signaling Peptides and Proteins ; LGI1 protein, human ; Nerve Tissue Proteins ; Proteins ; ADAM Proteins (EC 3.4.24.-) ; ADAM22 protein, human (EC 3.4.24.-) ; ADAM23 protein, human (EC 3.4.24.-)
Language	English
Publishing date	2016-10-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	2186725-2
ISSN	1553-7404 ; 1553-7390
ISSN (online)	1553-7404
ISSN	1553-7390
DOI	10.1371/journal.pgen.1006376
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Article ; Online: Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy.

Dazzo, Emanuela / Rehberg, Kati / Michelucci, Roberto / Passarelli, Daniela / Boniver, Clementina / Vianello Dri, Valeria / Striano, Pasquale / Striano, Salvatore / Pasterkamp, R Jeroen / Nobile, Carlo

Annals of neurology

2018 Volume 83, Issue 3, Page(s) 483–493

Abstract: Objective: Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy characterized by auditory symptoms. Two genes, LGI1 and RELN, encoding secreted proteins, are implicated in the etiology of ADLTE, but half of the affected ... ...

Abstract	Objective: Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy characterized by auditory symptoms. Two genes, LGI1 and RELN, encoding secreted proteins, are implicated in the etiology of ADLTE, but half of the affected families remain genetically unsolved, and the underlying molecular mechanisms are yet to be clarified. We aimed to identify additional genes causing ADLTE to better understand the genetic basis and molecular pathway underlying this epileptic disorder. Methods: A cohort of Italian ADLTE families was examined by whole exome sequencing combined with genome-wide single-nucleotide polymorphism-array linkage analysis. Results: We identified two ADLTE-causing variants in the MICAL-1 gene: a p.Gly150Ser substitution occurring in the enzymatically active monooxygenase (MO) domain and a p.Ala1065fs frameshift indel in the C-terminal domain, which inhibits the oxidoreductase activity of the MO domain. Each variant segregated with ADLTE in a single family. Examination of candidate variants in additional genes excluded their implication in ADLTE. In cell-based assays, both variants significantly increased MICAL-1 oxidoreductase activity and induced cell contraction in COS7 cells, which likely resulted from deregulation of F-actin dynamics. Interpretation: MICAL-1 oxidoreductase activity induces disassembly of actin filaments, thereby regulating the organization of the actin cytoskeleton in developing and adult neurons and in other cell types. This suggests that dysregulation of the actin cytoskeleton dynamics is a likely mechanism by which MICAL-1 pathogenic variants lead to ADLTE. Ann Neurol 2018;83:483-493.
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; Adult ; Amino Acid Sequence ; Animals ; COS Cells ; Chlorocebus aethiops ; Cohort Studies ; Cytoskeletal Proteins/genetics ; Epilepsy, Temporal Lobe/diagnosis ; Epilepsy, Temporal Lobe/genetics ; Female ; Genetic Variation/genetics ; Humans ; Italy ; LIM Domain Proteins/genetics ; Male ; Middle Aged ; Mutation/genetics ; Pedigree ; Young Adult
Chemical Substances	Adaptor Proteins, Signal Transducing ; Cytoskeletal Proteins ; LIM Domain Proteins ; MICAL1 protein, human (EC 1.-)
Language	English
Publishing date	2018-03-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.25167
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Article ; Online: Genetics of epilepsy and relevance to current practice.

Michelucci, Roberto / Pasini, Elena / Riguzzi, Patrizia / Volpi, Lilia / Dazzo, Emanuela / Nobile, Carlo

Current neurology and neuroscience reports

2012 Volume 12, Issue 4, Page(s) 445–455

Abstract: Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in ... ...

Abstract	Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and SCN1A-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and Dravet syndrome. Particular attention is devoted to a form of familial focal epilepsies, autosomal-dominant lateral temporal epilepsy, which is a model of non-ion genetic epilepsies. This condition is associated with mutations of the LGI1 gene, whose protein is secreted from the neurons and exerts its action on a number of targets, influencing cortical development and neuronal maturation.
MeSH term(s)	Animals ; Epilepsy/genetics ; Genes, Dominant/genetics ; Humans ; Mutation/genetics ; Phenotype
Language	English
Publishing date	2012-05-23
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2057363-7
ISSN	1534-6293 ; 1528-4042
ISSN (online)	1534-6293
ISSN	1528-4042
DOI	10.1007/s11910-012-0281-8
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Article ; Online: Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26.

Fanciulli, Manuela / Di Bonaventura, Carlo / Egeo, Gabriella / Fattouch, Jinane / Dazzo, Emanuela / Radovic, Slobodanka / Spadotto, Alessandro / Giallonardo, Anna Teresa / Nobile, Carlo

Epilepsy research

2014 Volume 108, Issue 2, Page(s) 232–240

Abstract: Purpose: To describe the clinical findings in a family with a benign form of mesial temporal lobe epilepsy and to identify the causative genetic factors.: Methods: All participants were personally interviewed and underwent neurologic examination. The ...

Abstract	Purpose: To describe the clinical findings in a family with a benign form of mesial temporal lobe epilepsy and to identify the causative genetic factors. Methods: All participants were personally interviewed and underwent neurologic examination. The affected subjects underwent EEG and most of them neuroradiological examinations (MRI). All family members were genotyped with the HumanCytoSNP-12 v1.0 beadchip and linkage analysis was performed with Merlin and Simwalk2 programs. Exome sequencing was performed on HiSeq2000, after exome capture with SureSelect 50 Mb kit v2.0. Results: The family had 6 members with temporal lobe epilepsy. Age at seizure onset ranged from 8 to 13 years. Five patients had epigastric auras often associated to oro-alimentary automatic activity, 3 patients presented loss of contact, and 2 experienced secondary generalizations. Febrile seizures occurred in 2 family members, 1 of whom also had temporal lobe epilepsy. EEG showed focal slow waves and epileptic abnormalities on temporal regions in 1 patient and was normal in the other affected individuals. MRI was normal in all temporal lobe epilepsy patients. We performed single nucleotide polymorphism-array linkage analysis of the family and found suggestive evidence of linkage (LOD score=2.106) to a region on chromosome 3q26. Haplotype reconstruction supported the linkage data and showed that the majority of unaffected family members carried the haplotype at risk. Whole exome sequencing failed to identify pathogenic mutations in genes of the candidate region. Conclusions: Our data suggest the existence of a novel locus for benign familial mesial temporal lobe epilepsy on chromosome 3q26. Our failure to identify pathogenic mutations in genes of this region may be due to limitations of the exome sequencing technology.
MeSH term(s)	Adolescent ; Child ; Chromosomes, Human, Pair 3/genetics ; Epilepsy, Temporal Lobe/congenital ; Epilepsy, Temporal Lobe/diagnosis ; Epilepsy, Temporal Lobe/genetics ; Female ; Genetic Linkage/genetics ; Humans ; Male ; Pedigree
Language	English
Publishing date	2014-02
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	632939-1
ISSN	1872-6844 ; 0920-1211
ISSN (online)	1872-6844
ISSN	0920-1211
DOI	10.1016/j.eplepsyres.2013.11.002
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