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Article ; Online: EEG in neonatal seizures: where to look and what to see.

Pisani, Francesco / Spagnoli, Carlotta

2023 Volume 22, Issue 11-12, Page(s) 963–979

Abstract: Introduction: Neonatal seizures are frequent and carry a detrimental prognostic outlook. Diagnosis is based on EEG confirmation. Classification has recently changed.: Areas covered: We consulted original papers, book chapters, atlases, and reviews to ...

Abstract	Introduction: Neonatal seizures are frequent and carry a detrimental prognostic outlook. Diagnosis is based on EEG confirmation. Classification has recently changed. Areas covered: We consulted original papers, book chapters, atlases, and reviews to provide a narrative overview on EEG characteristics of neonatal seizures. We searched PubMed, without time restrictions (last visited: 31 May 2022). Additional papers were extracted from the references list of selected papers. We describe the typical neonatal ictal EEG discharges morphology, location, and propagation, together with age-dependent features. Etiology-dependent electroclinical features, when identifiable, are presented for both acute symptomatic neonatal seizures and neonatal-onset epilepsies and developmental/epileptic encephalopathies. The few ictal variables known to predict long-term outcome have been discussed. Expert opinion: Multimodal neuromonitoring in critically ill newborns, high-density EEG, and functional neuroimaging might increase our insight into the neurophysiological bases of seizures in newborns. Increasing availability of long-term monitoring with conventional video-EEG and automated detection methods will allow clinicians and researchers to gather an ever expanding bulk of clinical and neurophysiological data to enhance accuracy with deep phenotyping. The latest classification proposal represents an input for critically revising our diagnostic abilities with respect to seizure definition, duration, and semiology, possibly further promoting clinical research.
MeSH term(s)	Infant, Newborn ; Humans ; Epilepsy ; Seizures/diagnosis ; Electroencephalography/methods ; Epilepsy, Generalized ; Stroke
Language	English
Publishing date	2023-01-22
Publishing country	England
Document type	Journal Article
ZDB-ID	2112534-X
ISSN	1744-8360 ; 1473-7175
ISSN (online)	1744-8360
ISSN	1473-7175
DOI	10.1080/14737175.2022.2169132
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Article ; Online: What are the considerations when initiating treatment for epilepsy in children?

Pisani, Francesco / Spagnoli, Carlotta

Expert review of neurotherapeutics

2023 Volume 23, Issue 12, Page(s) 1081–1096

Abstract: Introduction: There is a very wide spectrum of epilepsies and developmental and epileptic encephalopathies that affect children, from self-limited forms, not necessarily requiring treatment, to severe drug-resistant ones.: Areas covered: In this ... ...

Abstract	Introduction: There is a very wide spectrum of epilepsies and developmental and epileptic encephalopathies that affect children, from self-limited forms, not necessarily requiring treatment, to severe drug-resistant ones. Areas covered: In this perspective, the authors discuss the main factors to consider before drug prescription in children, considering the most recent clinical research, including age, seizure type, epilepsy syndrome, etiology, efficacy and safety profile, comorbidities, gender, available formulations, costs and drug coverage, and regulatory issues. The literature search was conducted through a PubMed search on antiseizure medications for patients aged 0-18, with respect to each of the aforementioned factors, and by checking the reference lists of relevant papers. Expert opinion: The most expanding field of research and innovation for clinical practice is precision medicine, which addresses the holistic treatment of genetic epilepsies and developmental and epileptic encephalopathies. It achieves this by addressing their detrimental effects on synapses, neurotransmission, and cellular signaling pathways with the double aim to treat seizures and to rescue neurodevelopmental trajectories, but also the issue of adverse events and drug resistance through pharmacogenomics.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Anticonvulsants/therapeutic use ; Epilepsy/drug therapy ; Epilepsy, Generalized/drug therapy ; Seizures/drug therapy
Chemical Substances	Anticonvulsants
Language	English
Publishing date	2023-12-15
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2112534-X
ISSN	1744-8360 ; 1473-7175
ISSN (online)	1744-8360
ISSN	1473-7175
DOI	10.1080/14737175.2023.2288107
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Article ; Online: Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.

Spagnoli, Carlotta / Fusco, Carlo / Pisani, Francesco

International journal of molecular sciences

2023 Volume 24, Issue 4

Abstract: Genetic early-onset Parkinsonism is unique due to frequent co-occurrence of hyperkinetic movement disorder(s) (MD), or additional neurological of systemic findings, including epilepsy in up to 10-15% of cases. Based on both the classification of ... ...

Abstract	Genetic early-onset Parkinsonism is unique due to frequent co-occurrence of hyperkinetic movement disorder(s) (MD), or additional neurological of systemic findings, including epilepsy in up to 10-15% of cases. Based on both the classification of Parkinsonism in children proposed by Leuzzi and coworkers and the 2017 ILAE epilepsies classification, we performed a literature review in PubMed. A few discrete presentations can be identified: Parkinsonism as a late manifestation of complex neurodevelopmental disorders, characterized by developmental and epileptic encephalopathies (DE-EE), with multiple, refractory seizure types and severely abnormal EEG characteristics, with or without preceding hyperkinetic MD; Parkinsonism in the context of syndromic conditions with unspecific reduced seizure threshold in infancy and childhood; neurodegenerative conditions with brain iron accumulation, in which childhood DE-EE is followed by neurodegeneration; and finally, monogenic juvenile Parkinsonism, in which a subset of patients with intellectual disability or developmental delay (ID/DD) develop hypokinetic MD between 10 and 30 years of age, following unspecific, usually well-controlled, childhood epilepsy. This emerging group of genetic conditions leading to epilepsy or DE-EE in childhood followed by juvenile Parkinsonism highlights the need for careful long-term follow-up, especially in the context of ID/DD, in order to readily identify individuals at increased risk of later Parkinsonism.
MeSH term(s)	Child ; Humans ; Parkinsonian Disorders ; Intellectual Disability ; Neurodegenerative Diseases ; Epilepsy/genetics ; Seizures
Language	English
Publishing date	2023-02-14
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms24043796
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Article: Posterior Cranial Fossa Malformation and Vascular Dysplasia in GJB2 Gene Mutation.

Cesaroni, Carlo Alberto / Napoli, Manuela / Spagnoli, Carlotta / Rizzi, Susanna / Frattini, Daniele / Fusco, Carlo

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

2023 , Page(s) 1–3

Language	English
Publishing date	2023-09-08
Publishing country	England
Document type	Journal Article
ZDB-ID	197622-9
ISSN	0317-1671
ISSN	0317-1671
DOI	10.1017/cjn.2023.271
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Article ; Online: The independent role of neonatal seizures in epilepsy and other long-term neurological outcomes.

Spagnoli, Carlotta / Pisani, Francesco

Developmental medicine and child neurology

2019 Volume 61, Issue 6, Page(s) 624

MeSH term(s)	Epilepsy ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; Seizures
Language	English
Publishing date	2019-02-14
Publishing country	England
Document type	Journal Article ; Comment
ZDB-ID	80369-8
ISSN	1469-8749 ; 0012-1622
ISSN (online)	1469-8749
ISSN	0012-1622
DOI	10.1111/dmcn.14197
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Article ; Online: Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.

Cavalli, Anna / Caraffi, Stefano Giuseppe / Rizzi, Susanna / Trimarchi, Gabriele / Napoli, Manuela / Frattini, Daniele / Spagnoli, Carlotta / Garavelli, Livia / Fusco, Carlo

BMC medical genomics

2024 Volume 17, Issue 1, Page(s) 68

Abstract: Background: Thousand and one amino-acid kinase 1 (TAOK1) encodes the MAP3K protein kinase TAO1, which has recently been displayed to be essential for neuronal maturation and cortical differentiation during early brain development. Heterozygous variants ... ...

Abstract	Background: Thousand and one amino-acid kinase 1 (TAOK1) encodes the MAP3K protein kinase TAO1, which has recently been displayed to be essential for neuronal maturation and cortical differentiation during early brain development. Heterozygous variants in TAOK1 have been reported in children with neurodevelopmental disorders, with or without macrocephaly, hypotonia and mild dysmorphic traits. Literature reports lack evidence of neuronal migration disorders in TAOK1 patients, although studies in animal models suggest this possibility. Case presentation: We provide a clinical description of a child with a neurodevelopmental disorder due to a novel TAOK1 truncating variant, whose brain magnetic resonance imaging displays periventricular nodular heterotopia. Conclusions: To our knowledge, this is the first report of a neuronal migration disorder in a patient with a TAOK1-related neurodevelopmental disorder, thus supporting the hypothesized pathogenic mechanisms of TAOK1 defects.
MeSH term(s)	Animals ; Male ; Child ; Humans ; Periventricular Nodular Heterotopia/diagnostic imaging ; Periventricular Nodular Heterotopia/genetics ; Amino Acids ; Phosphorylation ; Brain ; Neurodevelopmental Disorders/genetics
Chemical Substances	Amino Acids
Language	English
Publishing date	2024-03-05
Publishing country	England
Document type	Review ; Case Reports ; Journal Article
ZDB-ID	2411865-5
ISSN	1755-8794 ; 1755-8794
ISSN (online)	1755-8794
ISSN	1755-8794
DOI	10.1186/s12920-024-01840-8
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Article: A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature.

Baga, Margherita / Rizzi, Susanna / Spagnoli, Carlotta / Frattini, Daniele / Pisani, Francesco / Fusco, Carlo

Children (Basel, Switzerland)

2023 Volume 10, Issue 5

Abstract: Introduction: Charcot-Marie-Tooth (CMT) is a group of inherited peripheral neuropathies characterized by wide genotypic and phenotypic variability. The onset is typically in childhood, and the most frequent clinical manifestations are predominantly ... ...

Abstract	Introduction: Charcot-Marie-Tooth (CMT) is a group of inherited peripheral neuropathies characterized by wide genotypic and phenotypic variability. The onset is typically in childhood, and the most frequent clinical manifestations are predominantly distal muscle weakness, hypoesthesia, foot deformity (pes cavus) and areflexia. In the long term, complications such as muscle-tendon retractions, extremity deformities, muscle atrophy and pain may occur. Among CMT1, demyelinating and autosomal dominant forms, CMT1G is determined by mutations in the PMP2 myelin protein. Results: Starting from the index case, we performed a clinical, electrophysiological, neuroradiological and genetic evaluation of all family members for three generations; we identified p.Ile50del in PMP2 in all the nine affected members. They presented a typical clinical phenotype, with childhood-onset variable severity between generations and a chronic demyelinating sensory-motor polyneuropathy on the electrophysiologic examination; the progression was slow to very slow and predominant in the lower limbs. Our study reports a relatively large sample of patients, members of the same family, with CMT1G by PMP2, which is a rare form of demyelinating CMT, highlighting the genetic variability of the CMT family instead of the overlapping clinical phenotypes within demyelinating forms. To date, only supportive and preventive measures for the most severe complications are available; therefore, we believe that early diagnosis (clinical, electrophysiological and genetic) allows access to specialist follow-up and therapies, thereby improving the quality of life of patients.
Language	English
Publishing date	2023-05-19
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2732685-8
ISSN	2227-9067
ISSN	2227-9067
DOI	10.3390/children10050901
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Article ; Online: Educational needs and career development of young epileptologists in Italy.

Spagnoli, Carlotta / Duca, Maddalena / Pelliccia, Veronica / Lanzone, Jacopo / Masnada, Silvia / Chiarello, Daniela / Barco, Tommaso Lo / Dono, Fedele / Nucera, Bruna

Epilepsia open

2024 Volume 9, Issue 2, Page(s) 613–625

Abstract: Objective: The Education and Career Task Force of the Young Epilepsy Section-Italy focuses on educational and career development needs of young Italian epileptologists. Two surveys were developed (pre- and post COVID-19 pandemic) in order to identify ... ...

Abstract	Objective: The Education and Career Task Force of the Young Epilepsy Section-Italy focuses on educational and career development needs of young Italian epileptologists. Two surveys were developed (pre- and post COVID-19 pandemic) in order to identify the needs of members of the Lega Italiana Contro l'Epilessia under 40 years of age. Methods: The first was distributed during the 42nd National Congress (Rome, June 5-7, 2019); the second during the 45th National Congress (Padova, June 8-10, 2022) and subsequently by e-mail until July 9, 2022. Data from the 2019 survey were analyzed descriptively. Data from the 2022 survey were further analyzed with Pearson's chi-square test to establish if gender, field of clinical practice, and professional role were associated with different needs. Results: Sixty surveys were completed in 2019 and 69 in 2022. Attendance to courses and congresses as the preferred way to keep medical knowledge updated reduced between 2019 and 2022. The reason was different between trainees (mostly elevated costs) and early-career consultants (mostly organizational issues) (p = 0.005). The main needs for improvement also diverged: trainees indicated differential diagnosis and diagnostic approach to the first seizure while consultants indicated diagnostic approach to genetic epilepsies (p = 0.004); in the genetic field, priority needs were selection of genetic investigations for trainees versus genotype-phenotype correlations for consultants (p = 0.022). The field of practice (pediatric vs. adult) also impacted on the main needs for improvement that is, acquisition of expertise in neuroradiology and drug therapy for pediatric versus genetics for adult neurology trainees or consultants (p = 0.018); in the clinical area, differential diagnosis and approach to the first seizure versus status epilepticus (p = 0.027); in the genetic field, precision medicine versus genotype-phenotype correlations (p = 0.034). No differences were found based on gender. Significance: The surveys identified different needs based on professional role and discipline. Plain language summary: The Education and Career Task Force of the Young Epilepsy Section-Italy (YES-I) launched two surveys among young Italian epileptologists. Our research shows that the educational and professional needs of young Italian epileptologists vary based on their job role and field of practice, but not on gender. Their preference for on-site congresses and courses reduced after the pandemic, and the main reason is linked to financial constraints for trainees and to organizational issues for consultants. The main expectation toward YES-I is to receive support for education and career development. Thus, we collected useful suggestions on how to organize our future YES-I activities.
MeSH term(s)	Adult ; Humans ; Child ; Pandemics ; Italy ; Surveys and Questionnaires ; Epilepsy/diagnosis ; Seizures
Language	English
Publishing date	2024-02-22
Publishing country	United States
Document type	Journal Article
ISSN	2470-9239
ISSN (online)	2470-9239
DOI	10.1002/epi4.12888
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Article ; Online: Seizures in preterm newborns.

Pisani, Francesco / Spagnoli, Carlotta / Facini, Carlotta

Minerva pediatrica

2018 Volume 70, Issue 1, Page(s) 105–107

MeSH term(s)	Humans ; Infant, Newborn ; Infant, Newborn, Diseases/epidemiology ; Infant, Newborn, Diseases/physiopathology ; Infant, Newborn, Diseases/therapy ; Infant, Premature ; Seizures/epidemiology ; Seizures/physiopathology ; Seizures/therapy
Language	English
Publishing date	2018-01-23
Publishing country	Italy
Document type	Letter
ZDB-ID	123571-0
ISSN	1827-1715 ; 0026-4946
ISSN (online)	1827-1715
ISSN	0026-4946
DOI	10.23736/S0026-4946.16.04742-3
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Article ; Online: Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.

Rizzi, Susanna / Spagnoli, Carlotta / Frattini, Daniele / Pisani, Francesco / Fusco, Carlo

Behavioural neurology

2022 Volume 2022, Page(s) 2210555

Abstract: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. Adeno-associated viral vector- ... ...

Abstract	Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. Adeno-associated viral vector-mediated gene transfer of the human AADC gene into the putamina has become available. This systematic review on PubMed, Scopus databases, and other sources is aimed at describing the AADC whole phenotypic spectrum in order to facilitate its early diagnosis. Literature reviews, original articles, retrospective and comparative studies, large case series, case reports, and short communications were considered. A database was set up using Microsoft Excel to collect clinical, molecular, biochemical, and therapeutic data. By analysing 261 patients from 41 papers with molecular and/or biochemical diagnosis of AADC deficiency for which individuality could be determined with certainty, we found symptom onset to occur in the first 6 months of life in 93% of cases. Hypotonia and developmental delay are cardinal signs, reported as present in 73.9% and 72% of cases, respectively. Oculogyric crises were seen in 67% of patients while hypokinesia in 42% and ptosis in 26%. Dysautonomic features have been revealed in 53% and gastrointestinal symptoms in 19% of cases. With 37% and 30% of patients reported being affected by sleep and behavioural disorders, it seems to be commoner than previously acknowledged. Although reporting bias cannot be excluded, there is still a need for comprehensive clinical descriptions of symptoms at onset and during follow-up. In fact, our review suggests that most of the neurological and extraneurological symptoms and signs reported, although quite frequent in this condition, are not pathognomonic, and therefore, ADCC deficiency can remain an underdiscovered disorder.
MeSH term(s)	Humans ; Dopa Decarboxylase/genetics ; Dopa Decarboxylase/therapeutic use ; Retrospective Studies ; Amino Acid Metabolism, Inborn Errors/genetics ; Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/drug therapy ; Amino Acids/therapeutic use
Chemical Substances	Dopa Decarboxylase (EC 4.1.1.-) ; Amino Acids
Language	English
Publishing date	2022-10-11
Publishing country	Netherlands
Document type	Systematic Review ; Journal Article ; Review
ZDB-ID	1001896-7
ISSN	1875-8584 ; 0953-4180
ISSN (online)	1875-8584
ISSN	0953-4180
DOI	10.1155/2022/2210555
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