Publications by authors named "Claudia M Bonardi"

4 Publications

  • Page 1 of 1

Efficacy of lacosamide in neonatal-onset super-refractory status epilepticus: a case report.

Epileptic Disord 2021 Jul 14. Epub 2021 Jul 14.

Paediatric Neurology and Neurophysiology Unit, Department of Woman's and Child's Health, Padova University Hospital, Padova, Italy.

We report the case of a previously healthy newborn who developed super-refractory status epilepticus after Group B streptococcal meningoencephalitis. After administration of first-, second- and third-line anticonvulsants without resolution of status epilepticus, we started intravenous lacosamide as adjunctive therapy to phenobarbital, phenytoin and continuous infusion of ketamine and midazolam. After administration of lacosamide, we observed a clear-cut improvement in the neurological clinical condition coupled with seizure control on continuous video-EEG monitoring, even after suspension of all other medications except for phenobarbital. No adverse effects ascribable to lacosamide were reported. The available data regarding the use of lacosamide for status epilepticus in adults and children are promising, although there is as yet only anecdotal evidence for neonatal status epilepticus. Its lack of potential interactions, good tolerability and the option of intravenous use lend to its appeal as treatment for status epilepticus. To the best of our knowledge, this is one of the first reported cases of effective lacosamide infusion in neonatal-onset super-refractory status epilepticus. This evidence should prompt further investigation on efficacy and safety of lacosamide to support its use in this population.
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July 2021

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Brain 2021 Jun 11. Epub 2021 Jun 11.

Pediatric Neurology Department, Lyon University Hospital, 69500 Bron, France.

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy ((AD)SHE) to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies (DEE). This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 unpreviously published and 182 published cases, the largest cohort reported so far. Four phenotypic groups emerged from our analysis: i) EIMFS (152 individuals, 33 previously unpublished); ii) DEE other than EIMFS (non-EIMFS DEE) (37 individuals, 17 unpublished); iii) (AD)SHE (53 patients, 14 unpublished); iv) other phenotypes (6 individuals, 2 unpublished). In our cohort of 66 new cases, the most common phenotypic features were: a) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; b) in non-EIMFS DEE, possible onset with West syndrome, occurrence of atypical absences, possible evolution to DEE with SHE features; one case of sudden unexplained death in epilepsy (SUDEP); c) in (AD)SHE, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural/psychiatric comorbidities were reported in about 50% of the patients, SUDEP in one individual; d) other phenotypes in individuals with mutation of KCNT1 included temporal lobe epilepsy, and epilepsy with tonic-clonic seizures and cognitive regression. Genotypic analysis of the whole cohort of 248 individuals showed only missense mutations and one inframe deletion in KCNT1. Although the KCNT1 mutations in affected individuals were seen to be distributed among the different domains of the KCNT1 protein, genotype-phenotype considerations showed many of the (AD)SHE-associated mutations to be clustered around the RCK2 domain in the C-terminus, distal to the NADP domain. Mutations associated with EIMFS/non-EIMFS DEE did not show a particular pattern of distribution in the KCNT1 protein. Recurrent KCNT1 mutations were seen to be associated with both severe and less severe phenotypes. Our study further defines and broadens the phenotypic and genotypic spectrums of KCNT1-related epileptic conditions and emphasizes the increasingly important role of this gene in the pathogenesis of early onset DEEs as well as in focal epilepsies, namely (AD)SHE.
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June 2021

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).

Clin Neurophysiol 2020 05 13;131(5):1030-1039. Epub 2020 Feb 13.

Danish Epilepsy Centre, Dianalund, Denmark; University of Copenhagen, Copenhagen, Denmark. Electronic address:

Objective: To investigate the clinical and EEG features of Encephalopathy with Status Epilepticus during slow Sleep (ESES) related to CNKSR2 pathogenic variants.

Methods: Detailed clinical history, repeated wakefulness/overnight sleep EEGs, brain MRI were collected in five patients, including one female, with CNKSR2-related ESES.

Results: Neurodevelopment in infancy was normal in two patients, delayed in three. Epilepsy onset (age range: 2-6 years) was associated with appearance or aggravation of cognitive impairment, language regression and/or behavioral disorders. Worsening of epilepsy and of cognitive/behavioral disturbances paralleled by enhancement of non-rapid eye movement (NREM) sleep-related, frontally predominant, EEG epileptic discharges [spike-wave-index (SWI): range 60-96%] was consistent with ESES. In three patients, episodes of absence status epilepticus or aggravation of atypical absences occurred, in this latter case associated with striking increment of awake SWI. Speech/oro-motor dyspraxia was diagnosed in four patients. In two patients, long-term follow-up showed epilepsy remission and persistence of mild/moderate cognitive disorders and behavioral disturbances into adulthood.

Conclusions: Novel findings of our study are occurrence also in females, normal neurodevelopment before epilepsy onset, epilepsy aggravation associated with enhanced awake SWI, mild/moderate evolution in adulthood and language disorder due to speech/oro-motor dyspraxia.

Significance: Our findings expand the phenotypic spectrum of CNKSR2-related ESES.
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May 2020

Nontraumatic tension pneumopericardium in nonventilated pediatric patients: a review.

J Card Surg 2019 Sep 3;34(9):829-836. Epub 2019 Jul 3.

Department of Woman's and Child's Health, Pediatric Intensive Care Unit, University Hospital of Padua, Padua, Italy.

Background And Aims: Pneumopericardium is a rare air leak syndrome caused by the abnormal presence of air in the pericardial sac, with a high risk of morbidity and mortality. It is clinically divided into nontension and tension pneumopericardium, with the latter resulting in a decreased cardiac output and circulatory failure. There are limited data regarding nontraumatic pneumopericardium in nonventilated pediatric patients. Therefore, we aimed to describe a case of tension pneumopericardium and review the available literature.

Methods: Case report and literature review of nontraumatic pneumopericardium in nonventilated pediatric patients.

Results: A 2-month-old infant developed cardiac tamponade secondary to tension pneumopericardium 11 days after cardiac surgery promptly resolved with pericardium drainage. We reviewed the literature on this topic and retrieved 50 cases, of which 72% were nontension whereas a minority were tension pneumopericardium (28%). Patients with tension pneumopericardium were mostly neonates (35.7% vs 22.2%), presented with an isolated air leak (64.3% vs 36.1%), and had a history of surgery (28.6% vs 8.3%) or hematological disease (28.6% vs 11.1%). In all nontension cases, treatment was conservative, whilst in all other cases, pericardiocentesis/pericardium drainage was carried out. There was a high survival rate (86.0%), which was lower in patients with tension pneumopericardium (71.4% vs 91.6%).

Conclusions: Pneumopericardium is a rare condition with a higher mortality rate in patients with tension pneumopericardium, which requires immediate diagnosis and treatment. In nonventilated patients, tension pneumopericardium occurred more frequently in neonates, as an isolated air leak, and in those with a history of surgery or hematological disease.
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September 2019