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Article: The Heart and Seizures: Friends or Enemies?

Pasini, Elena / Michelucci, Roberto

2023 Volume 12, Issue 18

Abstract: The heart and seizures are closely linked by an indissoluble relationship that finds its basis in the cerebral limbic circuit whose mechanisms remain largely obscure. The differential diagnosis between seizures and syncopes has always been a cornerstone ... ...

Abstract	The heart and seizures are closely linked by an indissoluble relationship that finds its basis in the cerebral limbic circuit whose mechanisms remain largely obscure. The differential diagnosis between seizures and syncopes has always been a cornerstone of the collaboration between cardiologists and neurologists and is renewed as a field of great interest for multidisciplinary collaboration in the era of the diffusion of prolonged telemonitoring units. The occurrence of ictal or post-ictal arrhythmias is currently a cause of great scientific debate with respect to the role and risks that these complications can generate (including sudden unexpected death in epilepsy). Furthermore, the study of epileptic seizures and the arrhythmological complications they cause (during and after seizures) also allows us to unravel the mechanisms that link them. Finally, intercritical arrhythmias may represent great potential in terms of the prevention of cardiological risk in epileptic patients as well as in the possible prediction of the seizures themselves. In this paper, we review the pertaining literature on this subject and propose a scheme of classification of the cases of arrhythmia temporally connected to seizures.
Language	English
Publishing date	2023-09-06
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm12185805
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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: The Heart and Seizures

Elena Pasini / Roberto Michelucci

Journal of Clinical Medicine, Vol 12, Iss 5805, p

Friends or Enemies?

2023 Volume 5805

Abstract	The heart and seizures are closely linked by an indissoluble relationship that finds its basis in the cerebral limbic circuit whose mechanisms remain largely obscure. The differential diagnosis between seizures and syncopes has always been a cornerstone of the collaboration between cardiologists and neurologists and is renewed as a field of great interest for multidisciplinary collaboration in the era of the diffusion of prolonged telemonitoring units. The occurrence of ictal or post-ictal arrhythmias is currently a cause of great scientific debate with respect to the role and risks that these complications can generate (including sudden unexpected death in epilepsy). Furthermore, the study of epileptic seizures and the arrhythmological complications they cause (during and after seizures) also allows us to unravel the mechanisms that link them. Finally, intercritical arrhythmias may represent great potential in terms of the prevention of cardiological risk in epileptic patients as well as in the possible prediction of the seizures themselves. In this paper, we review the pertaining literature on this subject and propose a scheme of classification of the cases of arrhythmia temporally connected to seizures.
Keywords	epilepsy ; syncope ; ictal asystole ; arrhythmia ; loss of consciousness ; SUDEP ; Medicine ; R
Subject code	572
Language	English
Publishing date	2023-09-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Fit and faint or faint and fit?

Pasini, Elena / Michelucci, Roberto

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

2020 Volume 132, Issue 1, Page(s) 178–179

MeSH term(s)	Aged ; Brain/physiopathology ; Diagnosis, Differential ; Electroencephalography ; Epilepsy/diagnosis ; Epilepsy/physiopathology ; Humans ; Male ; Syncope/diagnosis ; Syncope/physiopathology
Language	English
Publishing date	2020-11-26
Publishing country	Netherlands
Document type	Letter
ZDB-ID	1463630-x
ISSN	1872-8952 ; 0921-884X ; 1388-2457
ISSN (online)	1872-8952
ISSN	0921-884X ; 1388-2457
DOI	10.1016/j.clinph.2020.11.013
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Article ; Online: Iatrogenic ictal asystole.

Pasini, Elena / Riguzzi, Patrizia / Michelucci, Roberto

Journal of the neurological sciences

2022 Volume 434, Page(s) 120183

Abstract: Background: Sodium channels blockers are widely used in focal epilepsies. Beyond frequent and recognized adverse events, a possible influence in cardiac conduction has rarely been hypothesized. Cardiac asystolia is a rare complication of seizures: exact ...

Abstract	Background: Sodium channels blockers are widely used in focal epilepsies. Beyond frequent and recognized adverse events, a possible influence in cardiac conduction has rarely been hypothesized. Cardiac asystolia is a rare complication of seizures: exact etiology is far from being clarified. Method and results: Here we report two cases of focal pharmacoresistant epilepsy complicated by ictal asystole which occurred only in the course of treatment with carbamazepine and phenytoin. Conclusions: The clear relationship between ictal arrhythmia and sodium channels blockers may be related to the negative chronotropic and inotropic cardiac effects. Ictal asystole may exacerbate falls in epileptic populations and requires rapid therapeutic decisions. Iatrogenic causes must be added in the therapeutic algorithm.
MeSH term(s)	Electroencephalography ; Epilepsies, Partial/complications ; Epilepsy/complications ; Heart Arrest/chemically induced ; Humans ; Iatrogenic Disease ; Seizures/complications ; Sodium Channels
Chemical Substances	Sodium Channels
Language	English
Publishing date	2022-02-08
Publishing country	Netherlands
Document type	Case Reports ; Letter
ZDB-ID	80160-4
ISSN	1878-5883 ; 0022-510X ; 0374-8642
ISSN (online)	1878-5883
ISSN	0022-510X ; 0374-8642
DOI	10.1016/j.jns.2022.120183
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Article ; Online: Differential diagnosis of familial adult myoclonic epilepsy.

Baykan, Betul / Franceschetti, Silvana / Canafoglia, Laura / Cavalleri, Gianpiero L / Michelucci, Roberto / Scheffer, Ingrid E

Epilepsia

2023 Volume 64 Suppl 1, Page(s) S52–S57

Abstract: Objective: Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms, which vary depending on the FAME subtype. FAME is caused by ... ...

Abstract	Objective: Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms, which vary depending on the FAME subtype. FAME is caused by pentanucleotide repeat expansions of intronic TTTCA/TTTTA in different genes. FAME should be distinguished from a range of differential diagnoses. Methods: The differential diagnoses and frequent presentations leading to misdiagnosis of FAME were investigated from the available literature and reported based on an expert opinion survey. Results: The phenotypic features of FAME, including generalized tonic-clonic and myoclonic seizures, are also seen in other epilepsy syndromes, such as juvenile myoclonic epilepsy, with a resultant risk of misdiagnosis and lack of identification of the underlying cause. Cortical myoclonus may mimic essential tremor or drug-induced tremor. In younger individuals, the differential diagnosis includes progressive myoclonus epilepsies (PMEs), such as Unverricht-Lundborg disease, whereas, in adulthood, late-onset variants of PMEs, such as sialidoses, myoclonus epilepsy, and ataxia due to potassium channel pathogenic variants should be considered. PMEs may also be suggested by cognitive impairment, cerebellar signs, or psychiatric disorders. Electroencephalography (EEG) may show similarities to other idiopathic generalized epilepsies or PMEs, with generalized spike-wave activity. Signs of cortical hyperexcitability may be seen, such as an increased amplitude of somatosensory evoked potentials or enhanced cortical reflex to sensory stimuli, together with the neurophysiological pattern of the movement disorder. Significance: Recognition of FAME will inform prognostic and genetic counseling and diagnosis of the insidious progression, which may occur in older individuals who show mild cognitive deterioration. Distinguishing FAME from other disorders in individuals or families with this constellation of symptoms is essential to allow the identification of underlying etiology.
MeSH term(s)	Humans ; Adult ; Aged ; Diagnosis, Differential ; Myoclonus/diagnosis ; Epilepsies, Myoclonic/diagnosis ; Epilepsies, Myoclonic/genetics ; Epilepsy, Generalized/diagnosis ; Electroencephalography ; Myoclonic Epilepsies, Progressive/diagnosis ; Myoclonic Epilepsies, Progressive/genetics ; Myoclonic Epilepsy, Juvenile/diagnosis ; Myoclonic Epilepsy, Juvenile/genetics ; Seizures/diagnosis
Language	English
Publishing date	2023-02-21
Publishing country	United States
Document type	Journal Article
ZDB-ID	216382-2
ISSN	1528-1167 ; 0013-9580
ISSN (online)	1528-1167
ISSN	0013-9580
DOI	10.1111/epi.17536
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Article ; Online: Hypoglycemia: The Great Chameleon: A Pseudo-Nonconvulsive Status Epilepticus.

Michelucci, Roberto / Testoni, Stefania / Pantieri, Roberta / Riguzzi, Patrizia / Pasini, Elena

The American journal of medicine

2021 Volume 135, Issue 1, Page(s) e11–e13

MeSH term(s)	Diagnostic Errors ; Electroencephalography ; Female ; Humans ; Hypoglycemia/diagnosis ; Hypoglycemia/etiology ; Insulinoma/complications ; Middle Aged ; Pancreatic Neoplasms/complications ; Status Epilepticus/diagnosis
Language	English
Publishing date	2021-09-17
Publishing country	United States
Document type	Case Reports
ZDB-ID	80015-6
ISSN	1555-7162 ; 1873-2178 ; 0002-9343 ; 1548-2766
ISSN (online)	1555-7162 ; 1873-2178
ISSN	0002-9343 ; 1548-2766
DOI	10.1016/j.amjmed.2021.08.016
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Article ; Online: Clinical practice guidelines on the management of status epilepticus in adults: A systematic review.

Vignatelli, Luca / Tontini, Valentina / Meletti, Stefano / Camerlingo, Maria / Mazzoni, Stefania / Giovannini, Giada / Pasini, Elena / Michelucci, Roberto / Bisulli, Francesca / Tinuper, Paolo / Di Vito, Lidia

Epilepsia

2024

Abstract: Objective: Status epilepticus (SE) is the second most common neurological emergency in adults. Despite improvements in the management of acute neurological conditions over the last decade, mortality is still durably high. Because a gap has emerged ... ...

Abstract	Objective: Status epilepticus (SE) is the second most common neurological emergency in adults. Despite improvements in the management of acute neurological conditions over the last decade, mortality is still durably high. Because a gap has emerged between SE management based on clinical practice guidelines (CPGs) and actual clinical practice, we conducted a systematic review of CPGs, assessing their quality, outlining commonalities and discrepancies in recommendations, and highlighting research gaps. Methods: We searched the PubMed and EMBASE databases and other gray literature sources (nine among guideline registries, evidence-based medicine databases, point-of-care tools; seven websites of governmental organizations and international neurologic societies) in December 2021 (updated in November 2023). The units of analysis were CPGs that included recommendations on the diagnostic and/or therapeutic management of SE in adults. The quality of the CPGs was assessed using the AGREE II tool. Results: Fifteen CPGs were included. The "Applicability" domain was assigned the lowest median score of 10%. The domains "Stakeholder Involvement", "Rigor of Development," and "Editorial Independence" were as well generally underrated. Recommendations on general and diagnostic management and on organizational interventions were fragmented and scattered. Recommendations on pre-hospital and hospital treatment of early-onset and refractory SE were broadly agreed, whereas there was less agreement on the treatment model and medications for established SE and super-refractory SE. Significance: The CPGs for the management of SE developed in recent years are flawed by several methodological issues and discrepancies in the coverage of important topics. The gap between CPG-based management of SE and actual clinical practice may be due in part to the inherent limitations of the CPGs produced so far.
Language	English
Publishing date	2024-04-12
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	216382-2
ISSN	1528-1167 ; 0013-9580
ISSN (online)	1528-1167
ISSN	0013-9580
DOI	10.1111/epi.17982
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Article ; Online: Myoclonus: Differential diagnosis and current management.

Riva, Antonella / D'Onofrio, Gianluca / Ferlazzo, Edoardo / Pascarella, Angelo / Pasini, Elena / Franceschetti, Silvana / Panzica, Ferruccio / Canafoglia, Laura / Vignoli, Aglaia / Coppola, Antonietta / Badioni, Valeria / Beccaria, Francesca / Labate, Angelo / Gambardella, Antonio / Romeo, Antonino / Capovilla, Giuseppe / Michelucci, Roberto / Striano, Pasquale / Belcastro, Vincenzo

Epilepsia open

2024 Volume 9, Issue 2, Page(s) 486–500

Abstract: Myoclonus classically presents as a brief (10-50 ms duration), non-rhythmic jerk movement. The etiology could vary considerably ranging from self-limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need ...

Abstract	Myoclonus classically presents as a brief (10-50 ms duration), non-rhythmic jerk movement. The etiology could vary considerably ranging from self-limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need a prompt diagnosis. Beyond the etiological classification, others evaluate myoclonus' body distribution (i.e., clinical classification) or the location of the generator (i.e., neurophysiological classification); particularly, knowing the anatomical source of myoclonus gives inputs on the observable clinical patterns, such as EMG bursts duration or EEG correlate, and guides the therapeutic choices. Among all the chronic disorders, myoclonus often presents itself as a manifestation of epilepsy. In this context, myoclonus has many facets. Myoclonus occurs as one, or the only, seizure manifestation while it can also present as a peculiar type of movement disorder; moreover, its electroclinical features within specific genetically determined epileptic syndromes have seldom been investigated. In this review, following a meeting of recognized experts, we provide an up-to-date overview of the neurophysiology and nosology surrounding myoclonus. Through the dedicated exploration of epileptic syndromes, coupled with pragmatic guidance, we aim to furnish clinicians and researchers alike with practical advice for heightened diagnostic management and refined treatment strategies. PLAIN LANGUAGE SUMMARY: In this work, we described myoclonus, a movement characterized by brief, shock-like jerks. Myoclonus could be present in different diseases and its correct diagnosis helps treatment.
MeSH term(s)	Humans ; Myoclonus/diagnosis ; Myoclonus/therapy ; Myoclonus/etiology ; Diagnosis, Differential ; Movement Disorders ; Epilepsy/complications ; Epileptic Syndromes/complications
Language	English
Publishing date	2024-02-09
Publishing country	United States
Document type	Journal Article ; Review
ISSN	2470-9239
ISSN (online)	2470-9239
DOI	10.1002/epi4.12917
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Ictal cardiorespiratory depression: a real risk for sudden unexpected death in epilepsy (SUDEP)?

Pasini, Elena / Provini, Federica / Michelucci, Roberto

BMJ case reports

2018 Volume 2018

Abstract: A 61-year-old woman affected by nocturnal hypermotor seizures since the age of 2 years complained of epigastric discomfort and chocking sensation before seizure onset for the last 25 years. Telemetry unit monitoring revealed several focal seizures with ... ...

Abstract	A 61-year-old woman affected by nocturnal hypermotor seizures since the age of 2 years complained of epigastric discomfort and chocking sensation before seizure onset for the last 25 years. Telemetry unit monitoring revealed several focal seizures with left frontotemporal onset complicated with ictal asystole and apnoea. After pacemaker (PM) implantation, video-EEG monitoring coupled with extensive respiratory montage confirmed the presence of ictal central apnoea. Despite this huge ictal autonomic imbalance which is claimed to be a risk factor for sudden unexpected death in epilepsy, the patient had a 25-year history of similar seizures, questioning the need to perform PM implantation and assisted ventilation.
MeSH term(s)	Death, Sudden/etiology ; Electroencephalography/methods ; Epilepsy/complications ; Epilepsy/mortality ; Female ; Heart Arrest/etiology ; Heart Arrest/therapy ; Humans ; Middle Aged ; Pacemaker, Artificial ; Risk Factors ; Sleep Apnea, Central/etiology ; Telemetry/methods
Language	English
Publishing date	2018-08-23
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2018-225238
Database	MEDical Literature Analysis and Retrieval System OnLINE

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