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1. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Author

Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R., Eslahi, A., Khazaei, Z., Feizabadi, M. H., Efthymiou, S., El-Bassyouni, H. T., Soliman, D. R., Tekes, S., Ozer, L., Baltaci, V., Khan, S., Beetz, C., Amr, K. S., Salpietro, V., Jamshidi, Y., Alkuraya, F. S., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Synaps, Group, Di Rosa, G., Aguennouz, M., Goraya, J. S., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H., Neuray C., Maroofian R., Scala M., Sultan T., Pai G.S., Mojarrad M., Khashab H.E., deHoll L., Yue W., Alsaif H.S., Zanetti M.N., Bello O., Person R., Eslahi A., Khazaei Z., Feizabadi M.H., Efthymiou S., El-Bassyouni H.T., Soliman D.R., Tekes S., Ozer L., Baltaci V., Khan S., Beetz C., Amr K.S., Salpietro V., Jamshidi Y., Alkuraya F.S., Houlden H., Mangano S., Dicle Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı, Tekeş, Selahattin, University College of London [London] (UCL), Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), University of Genoa (UNIGE), IRCCS Istituto Giannina Gaslini [Genoa, Italy], Children's Hospital [Lahore], Institute of Child Health [Lahore], Medical University of South Carolina [Charleston] (MUSC), Mashhad University of Medical Sciences, Ain Shams University (ASU), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Khorasan Razavi Agricultural and Natural Resources Research and Education Center, National Research Centre [Cairo, Egypt], Benha University (BU), Dicle University, CENTOGENE AG, University of London [London], King Faisal Specialist Hospital [Riyadh, Saudi Arabia] (Research Centre), and SYNaPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Gabriella Di Rosa, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves A Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa

Subjects
Male, 0301 basic medicine, Glutamate decarboxylase, Malalties cerebrals, Neurotransmissors, Neurodevelopmental delay, Epilepsy, 0302 clinical medicine, MESH: Child, Age of Onset, Child, cleft palate, GAD1, AcademicSubjects/SCI01870, Glutamate Decarboxylase, Glutamate receptor, Muscle weakness, purl.org/becyt/ford/3.1 [https], Neurotransmitters, MESH: Infant, Hypotonia, muscle weakne, Cleft palate, MESH: Epilepsy, Child, Preschool, Muscle Hypotonia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], purl.org/becyt/ford/3 [https], Female, Brain diseases, Abnormalities, medicine.symptom, Multiple, medicine.drug, epilepsy, muscle weakness, neurodevelopmental delay, MESH: Glutamate Decarboxylase, medicine.medical_specialty, MESH: Abnormalities, Multiple, MESH: Mutation, MESH: Age of Onset, Biology, Inhibitory postsynaptic potential, GAD1, cleft palate, epilepsy, muscle weakness, neurodevelopmental delay, gamma-Aminobutyric acid, 03 medical and health sciences, Excitatory synapse, Internal medicine, medicine, Humans, Abnormalities, Multiple, Preschool, Alleles, MESH: Neurodevelopmental Disorders, MESH: Humans, MESH: Muscle Hypotonia, MESH: Alleles, MESH: Child, Preschool, Infant, medicine.disease, MESH: Male, Epilèpsia, Editor's Choice, 030104 developmental biology, Endocrinology, Neurodevelopmental Disorders, Mutation, AcademicSubjects/MED00310, Neurology (clinical), MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Reports
Abstract

Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelopmental delay, muscle weakness and non-CNS manifestations., Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1−/− mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction. Furthermore, little is known about the consequence of GAD1 disruption in humans. Here we present six affected individuals from six unrelated families, carrying bi-allelic GAD1 variants, presenting with developmental and epileptic encephalopathy, characterized by early-infantile onset epilepsy and hypotonia with additional variable non-CNS manifestations such as skeletal abnormalities, dysmorphic features and cleft palate. Our findings highlight an important role for GAD1 in seizure induction, neuronal and extraneuronal development, and introduce GAD1 as a new gene associated with developmental and epileptic encephalopathy.

Published
2020
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2. Neuroimaging Changes in Menkes Disease, Part 1

Author

Manara, R, D'Agata, L, Rocco, Mc, Cusmai, R, Freri, E, Pinelli, L, Darra, Francesca, Procopio, E, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases: Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Giordano, L, Dionisi Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, Gaetano, and Zennaro, F.

Subjects
Menkes disease, neuroimaging, MRI, Male, Pathology, medicine.medical_specialty, vascular abnormalities, Neuroimaging, Disease, Pediatrics, 030218 nuclear medicine & medical imaging, White matter, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Menkes Kinky Hair Syndrome, Retrospective Studies, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, Retrospective cohort study, Menkes disease, medicine.disease, White matter changes, Magnetic Resonance Imaging, White Matter, X-linked disorder, myelination delay, medicine.anatomical_structure, myelination delay, vascular abnormalities, X-linked disorder, copper metabolism, Disease Progression, Female, copper metabolism, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery, MRI
Abstract

Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.

Published
2017

3. Neuroimaging Changes in Menkes Disease, Part 2

Author

Manara, R, Rocco, M C, D'Agata, L, Cusmai, R, Freri, E, Giordano, L, Darra, F, Procopio, E, Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Pinelli, L, Dionisi-Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, G, and Zennara, F

Subjects
Child abuse, Male, Pathology, medicine.medical_specialty, Neuroimaging, Disease, Pediatrics, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, gray matter changes, X-linked disorder, copper metabolism, neurodegeneration, basal ganglia lesions, subdural collections, Basal ganglia, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Gray Matter, Child, Menkes Kinky Hair Syndrome, Retrospective Studies, gray matter changes, medicine.diagnostic_test, business.industry, neurodegeneration, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, basal ganglia lesions, subdural collections, X-linked disorder, Menkes disease, Neurology (clinical), copper metabolism, Differential diagnosis, business, 030217 neurology & neurosurgery, Rare disease
Abstract

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.

Published
2017

4. Paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis: First report from the italian registry of pediatric thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili)

Author

Suppiej, A, Gentilomo, C, Saracco, P, Sartori, S, Agostini, M, Bagna, R, Bassi, B, Giordano, P, Grassi, M, Guzzetta, A, Lasagni, D, Luciani, M, Molinari, Ac, Palmieri, A, Putti, Mc, Ramenghi, La, Rota, Ll, Sperlì, D, Laverda, Am, Simioni, P(1), Collaborators: Angriman M, Stroke working group of the Italian Registry of Pediatric Thrombosis., Aru, Ab, Barisone, E, Bartalena, L, Berta, M, Bertoni, E, Cancarini, P, Cavaliere, E, Celle, Me, Cerbone, Am, Cesaroni, E, Dalla Via, L, Dell'Oro, Mg, Di Rosa, G, Ferrari, Gm, Fiori, S, Gaffuri, M, Gallina, Mr, Gimmillaro, A, Grandone, E, Ladogana, S, Laforgia, N, La Piana, R, Maschio, F, Miniero, R, Nosadini, M, Panzeri, D, Petrucci, A, Piersigilli, F, Sala, D, Sangermani, R, Santoro, N, Tufano, A, Ventura, G, Vittorini, R., Suppiej, A., Gentilomo, C., Saracco, P., Sartori, S., Agostini, M., Bagna, R., Bassi, B., Giordano, P., Grassi, M., Guzzetta, A., Lasagni, D., Luciani, M., Molinari, A. C., Palmieri, A., Putti, M. C., Ramenghi, L. A., Rota, L. L., Sperli, D., Laverda, A. M., Simioni, P., Angriman, M., Aru, A. B., Barisone, E., Bartalena, L., Berta, M., Bertoni, E., Cancarini, P., Cavaliere, E., Celle, M. E., Cerbone, A. M., Cesaroni, E., Via, L. D., Dell'Oro, M. G., Di Rosa, G., Ferrari, G. M., Fiori, S., Gaffuri, M., Gallina, M. R., Gimmillaro, A., Grandone, E., Ladogana, S., Laforgia, N., La Piana, R., Maschio, F., Miniero, R., Nosadini, M., Panzeri, D., Petrucci, A., Piersigilli, F., Sala, D., Sangermani, R., Santoro, N., Tufano, A., Ventura, G., and Vittorini, R.

Subjects
Male, Pediatrics, AIS, Children, CSVT, Italy, Registry, Thrombosis, Adolescent, Age of Onset, Brain Ischemia, Cerebral Arterial Diseases, Child, Child, Preschool, Delayed Diagnosis, Female, Humans, Infant, Predictive Value of Tests, Recurrence, Registries, Risk Factors, Sinus Thrombosis, Intracranial, Stroke, Time Factors, Treatment Outcome, Hematology, 030204 cardiovascular system & hematology, Sinus Thrombosis, Lethargy, 0302 clinical medicine, Medicine, Predictive value of tests, medicine.symptom, medicine.medical_specialty, NO, 03 medical and health sciences, Preschool, business.industry, medicine.disease, Intracranial, Clinical trial, Hemiparesis, Etiology, Age of onset, business, 030217 neurology & neurosurgery
Abstract

SummaryData from large case series of children with cerebral thrombotic events are pivotal to improve prevention, early recognition and treatment of these conditions. The Italian Registry of Pediatric Thrombosis (R. I. T. I.) was established in 2007 by a multidisciplinary team, aiming for a better understanding of neonatal and paediatric thrombotic events in Italy and providing a preliminary source of data for the future development of specific clinical trials and diagnostic-therapeutic protocols. We analysed data relative to the paediatric cerebral thrombotic events of the R. I. T. I. which occurred between January 2007 and June 2012. In the study period, 79 arterial ischaemic stroke (AIS) events (49 in males) and 91 cerebral sinovenous thrombosis (CSVT) events (65 in males) were enrolled in the R. I. T. I. Mean age at onset was 4.5 years in AIS, and 7.1 years in CSVT. Most common modes of presentation were hemiparesis, seizures and speech disturbances in AIS, and headache, seizures and lethargy in CSVT. Most common etiologies were underlying chronic diseases, vasculopathy and cardiopathy in AIS, and underlying chronic diseases and infection in CSVT. Time to diagnosis exceeded 24 hours in 46 % AIS and 59 % CSVT. Overall data from the Italian Registry are in substantial agreement with those from the literature, despite small differences. Among these, a longer time to diagnosis compared to other registries and case series poses the accent to the need of an earlier recognition of paediatric cerebrovascular events in Italy, in order to enable prompt and effective treatment strategies.

Published
2015

5. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients

Author

Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, Collaborators: Bassi MT, International AHC Consortium., Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, As, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, Cs, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J, Milh, M, Motte, J, Moutard, Ml, Napuri, S, Nassogne, Mc, Neau, Jp, Nicole, S, Panagiotakaki, E, Passemard, S, Pedespan, Jm, Penniello- Valette MJ, Poncelin, D, Ponsot, G, Poulat, Al, Pouplard, F, Rabilloud, M, Riant, F, Rivier, F, Roelens, P, Roubergue, A, Sanlaville, D, Tardieu, M, Veyrieres, S, de Grandis, E, Fons, C, Sisodiya, S, de Jonghe, P, Goubeau, C, van den Maagdenberg AM, Mikati, M, Scheffer, I, Nevsimalova, S, Kemlink, D, Krepelova, A, Kolnikova, M, Sykora, P, Kaski, J, Hanna, M, Houlden, H, Ulate-Campos, A, Cancho, R, Eiris, J, López-Laso, E, Velázquez, R, Carilho, I, Ozelius, L, Suls, A, Ceulemans, B, Buyse, G, di Michele, M, Ferrari, M, Peeters-Scholte, Cm., Universitat de Barcelona, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Suls, Arvid, De Jonghe, Peter, Ceulemans, Berten, Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium, UCL - (SLuc) Service de pédiatrie générale, and UCL - SSS/IREC/PEDI - Pôle de Pédiatrie

Subjects
Male, [SDV]Life Sciences [q-bio], medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Epilepsy, Genètica mèdica, 0302 clinical medicine, ATP1A3, inglese, Genetics(clinical), Pharmacology (medical), Young adult, Child, Genetics (clinical), Genetics, Medicine(all), 0303 health sciences, Mutation, Medical genetics, General Medicine, Middle Aged, Prognosis, 3. Good health, Child, Preschool, Alternating hemiplegia of childhood, Cohort, Hemiplègia, Female, Sodium-Potassium-Exchanging ATPase, Adult, medicine.medical_specialty, Adolescent, Hemiplegia, Biology, Genotype-phenotype, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Preschool, Genetic Association Studies, 030304 developmental biology, Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype, Health Surveys, Infant, Research, Mutació (Biologia), Mutation (Biology), medicine.disease, Clinical trial, Human medicine, 030217 neurology & neurosurgery, Alternating hemiplegia
Abstract

Background Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. Methods Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient. Results In total, 34 different ATP1A3 mutations were detected in 85 % (132/155) patients, seven of which were novel. In general, mutations were found to cluster into five different regions. The most frequent mutations included: p.Asp801Asn (43 %; 57/132), p.Glu815Lys (16 %; 22/132), and p.Gly947Arg (11 %; 15/132). Of these, p.Glu815Lys was associated with a severe phenotype, with more severe intellectual and motor disability. p.Asp801Asn appeared to confer a milder phenotypic expression, and p.Gly947Arg appeared to correlate with the most favourable prognosis, compared to the other two frequent mutations. Overall, the comparison of the clinical profiles suggested a gradient of severity between the three major mutations with differences in intellectual (p = 0.029) and motor (p = 0.039) disabilities being statistically significant. For patients with epilepsy, age at onset of seizures was earlier for patients with either p.Glu815Lys or p.Gly947Arg mutation, compared to those with p.Asp801Asn mutation (p

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6. The genetics of sleep disorders in children: A narrative review

Author

Giuseppe Loddo, Greta Mainieri, Federica Provini, Gabriella Di Rosa, Antonio Gennaro Nicotera, Angelica Montini, Mainieri G., Montini A., Nicotera A., Di Rosa G., Provini F., and Loddo G.

Subjects
Candidate gene, Insomnia, sleep-related breathing disorders, Neurosciences. Biological psychiatry. Neuropsychiatry, Genome-wide association study, Review, Electroencephalography, circadian rhythm sleep-wake disorders, Family studies, Sleep-related breathing disorder, Sleep-related movement disorders, medicine, parasomnias, Genetic association, medicine.diagnostic_test, General Neuroscience, Keywords: circadian rhythm sleep-wake disorders, hypersomnolence, insomnia, sleep-related movement disorders, Sleep in non-human animals, Circadian rhythm sleep-wake disorder, Parasomnia, Hypersomnolence, Narrative review, medicine.symptom, Psychology, RC321-571, Clinical psychology
Abstract

Sleep is a universal, highly preserved process, essential for human and animal life, whose complete functions are yet to be unravelled. Familial recurrence is acknowledged for some sleep disorders, but definite data are lacking for many of them. Genetic studies on sleep disorders have progressed from twin and family studies to candidate gene approaches to culminate in genome-wide association studies (GWAS). Several works disclosed that sleep-wake characteristics, in addition to electroencephalographic (EEG) sleep patterns, have a certain degree of heritability. Notwithstanding, it is rare for sleep disorders to be attributed to single gene defects because of the complexity of the brain network/pathways involved. Besides, the advancing insights in epigenetic gene-environment interactions add further complexity to understanding the genetic control of sleep and its disorders. This narrative review explores the current genetic knowledge in sleep disorders in children, following the International Classification of Sleep Disorders—Third Edition (ICSD-3) categorisation.

Published
2021

7. Conversation analysis in the differentiation of psychogenic nonepileptic and epileptic seizures in pediatric and adolescent settings

Author

Cecilia Perin, Gabriella Di Rosa, Maria Polita, Cesare Maria Cornaggia, Massimiliano Beghi, Adriana Magaudda, Cornaggia, C, Di Rosa, G, Polita, M, Magaudda, A, Perin, C, and Beghi, M

Subjects
Male, medicine.medical_specialty, Conversation analysis, Adolescent, Video Recording, Conversation analysi, Psychogenic nonepileptic seizures, Adolescents, Diagnosis, Differential, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Seizures, Psychogenic non-epileptic seizures, Clinical information, medicine, Psychogenic disease, Humans, 030212 general & internal medicine, Medical diagnosis, Psychiatry, Child, Children, Adult health, Adolescents, Children, Conversation analysis, Psychogenic nonepileptic seizures, Conversation Analysis, Psychogenic Non Epileptic Seizures, Adolescents, Children, Language, Verbal Behavior, Electroencephalography, medicine.disease, Psychophysiologic Disorders, Neurology, Italy, Psychogenic nonepileptic seizure, Female, Neurology (clinical), Differential diagnosis, Psychology, 030217 neurology & neurosurgery, Clinical psychology
Abstract

The differential diagnosis of epileptic seizures (ES) and psychogenic nonepileptic seizures (PNES) is often difficult, especially in pediatric and adolescent settings. Conversation analysis (CA) can be a worthwhile diagnostic tool in adults. The aim of this study was to assess the diagnostic value of CA in Italian children and adolescents. Ten patients (seven females and three males), diagnosed using video-EEG as having either ES or PNES, underwent a video-recorded interview by a physician from outside the center specifically trained for this purpose. An external linguistic rater then examined the video recordings and transcripts using CA. Diagnoses formulated on the basis of interactional and linguistic features of the patients' speech were compared with diagnoses made by seizure experts on the basis of all available clinical information including the video-EEG findings. Conversation analysis diagnoses corresponded to the video-EEG diagnoses in 8 out of 10 cases. In conclusion, while some conversational adaptation is necessary to enable children and adolescents to share their seizure experiences with an adult health professional, this study indicates the differential diagnostic potential of a CA approach in these young people with PNES or epilepsy. Larger samples are obviously needed to confirm these findings.

Published
2016

8. Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

Author

Vincenzo Salpietro, Alberto Spalice, Marco Carotenuto, Salvatore Savasta, Pasquale Parisi, Giangennaro Coppola, Raffaella Cusmai, Pietro Ferrara, Alberto Verrotti, Gabriella Di Rosa, Maria Cristina Balistreri, Elisabetta Tozzi, Patrizia Accorsi, Nicola Specchio, Martino Ruggieri, Salvatore Grosso, Maurizio Elia, Pasquale Striano, Sara Matricardi, Matricardi, S, Spalice, A, Salpietro, V, Di Rosa, G, Balistreri, Mc, Grosso, S, Parisi, P, Elia, M, Striano, P, Accorsi, P, Cusmai, R, Specchio, N, Coppola, G, Savasta, S, Carotenuto, Marco, Tozzi, E, Ferrara, P, Ruggieri, M, and Verrotti, A. 1.

Subjects
0301 basic medicine, Pediatrics, medicine.medical_specialty, Pathology, Edwards syndrome, epilepsy, outcome, structural brain malformations, trisomy 18, Neuroimaging, Trisomy, 030105 genetics & heredity, Electroencephalography, full trisomy 18, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Genetics, Medicine, Humans, Edwards syndrome, epilepsy, outcome, structural brain malformations, trisomy 18, Genetics (clinical), Retrospective Studies, medicine.diagnostic_test, business.industry, Seizure types, Infant, Newborn, Brain, Infant, Retrospective cohort study, medicine.disease, Drug Resistant Epilepsy, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, business, Chromosomes, Human, Pair 18, 030217 neurology & neurosurgery, Trisomy 18 Syndrome
Abstract

This paper reports on the clinical aspects, electroencephalographic (EEG) features, and neuroimaging findings in children with full trisomy 18 and associated epilepsy, and compares the evolution and outcome of their neurological phenotype. We retrospectively studied 18 patients (10 males and 8 females; aged 14 months to 9 years) with full trisomy 18 and epilepsy. All patients underwent comprehensive assessment including neuroimaging studies of the brain. We divided patients into two groups according to neuroimaging findings: (Group 1) 10 patients harboring structural brain malformations, and (Group 2) 8 patients with normal brain images. Group 1 had a significantly earlier age at seizure onset (2 months) compared to Group 2 (21 months). The seizure semiology was more severe in Group 1, who presented multiple seizure types, need for polytherapy (80% of patients), multifocal EEG abnormalities and poorer outcome (drug resistant epilepsy in 90% of patients) than Group 2 who presented a single seizure type, generalized or focal, and non-specific EEG pattern; these patients were successfully treated with monotherapy with good outcome. Imaging revealed a wide and complex spectrum of structural brain abnormalities including anomalies of the commissures, cerebellar malformations, cortical abnormalities, and various degrees of cortical atrophy. Epilepsy in full trisomy 18 may develop during the first months of life and can be associated with structural brain malformations. Patients with brain malformations can show multiple seizure types and can frequently be resistant to therapy with antiepileptic drugs. © 2016 Wiley Periodicals, Inc.

Published
2016

9. Validation of a novel classification model of psychogenic nonepileptic seizures by video-EEG analysis and a machine learning approach

Author

Angela Laganà, Cinzia Scalera, Cesare Maria Cornaggia, Massimiliano Beghi, Alessandro Calamuneri, Adriana Magaudda, Teresa Brizzi, Gabriella Di Rosa, Magaudda, A, Laganà, A, Calamuneri, A, Brizzi, T, Scalera, C, Beghi, M, Cornaggia, C, and Di Rosa, G

Subjects
Male, medicine.medical_specialty, Video eeg, Video Recording, Signs and symptoms, pnes, classification, Video-EEG, Audiology, Psychogenic seizure, Classification of PNESs, Diagnosis, Differential, Machine Learning, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Seizures, Classification of PNESs, Machine learning, Psychogenic seizures, Video-EEG, medicine, Psychogenic disease, Humans, Single-Blind Method, 030212 general & internal medicine, Somatoform Disorders, Psychogenic seizures, Retrospective Studies, Psychiatry, Communication, business.industry, Visual examination, Statistical validation, Electroencephalography, Focus Groups, Middle Aged, medicine.disease, Class (biology), Psychogenic Seizure, Neurology, Classification of PNES, Female, Neurology (clinical), Neural Networks, Computer, Psychology, business, 030217 neurology & neurosurgery
Abstract

The aim of this study was to validate a novel classification for the diagnosis of PNESs. Fifty-five PNES video-EEG recordings were retrospectively analyzed by four epileptologists and one psychiatrist in a blind manner and classified into four distinct groups: Hypermotor (H), Akinetic (A), Focal Motor (FM), and with Subjective Symptoms (SS). Eleven signs and symptoms, which are frequently found in PNESs, were chosen for statistical validation of our classification. An artificial neural network (ANN) analyzed PNES video recordings based on the signs and symptoms mentioned above. By comparing results produced by the ANN with classifications given by examiners, we were able to understand whether such classification was objective and generalizable. Through accordance metrics based on signs and symptoms (range: 0-100%), we found that most of the seizures belonging to class A showed a high degree of accordance (mean ± SD = 73% ± 5%); a similar pattern was found for class SS (80% slightly lower accordance was reported for class H (58% ± 18%)), with a minimum of 30% in some cases. Low agreement arose from the FM group. Seizures were univocally assigned to a given class in 83.6% of seizures. The ANN classified PNESs in the same way as visual examination in 86.7%. Agreement between ANN classification and visual classification reached 83.3% (SD = 17.8%) accordance for class H, 100% (SD = 22%) for class A, 83.3% (SD = 21.2%) for class SS, and 50% (SD = 19.52%) for class FM. This is the first study in which the validity of a new PNES classification was established and reached in two different ways. Video-EEG evaluation needs to be performed by an experienced clinician, but later on, it may be fed into ANN analysis, whose feedback will provide guidance for differential diagnosis. Our analysis, supported by the ML approach, showed that this model of classification could be objectively performed by video-EEG examination.

Published
2015

10. PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Author

Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba‐Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D., Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James E. C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J. R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Khorassani, Mohamed El, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda‐Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Rothman, James, Giunti, Paola, Salpietro, Vincenzo, Oconnor, Emer, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Hostettler, Isabel, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen‐Yang, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al‐Khawaja, Issam, Al‐Mutairi, Fuad, Alkuraya, Fowzan S, Sherifa, Hamed, Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Oshinaike, Olajumoke O., Wahab, Kolawole, Bello, Abiodun H., Abubakar, Sanni, Obiabo, Yahaya, Nwazor, Ernest, Ekenze, Oluchi, Williams, Uduak, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Pchelina, Sofya, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Rossi, Salvatore, Silvestri, Gabriella, Bourinaris, Thomas, Xiromerisiou, Georgia, Fidani, Liana, Spanaki, Cleanthe, Tucci, Arianna, University College London Hospitals (UCLH), Université d'Ottawa [Ontario] (uOttawa), King‘s College London, University College of London [London] (UCL), University of Cyprus [Nicosia], UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, Institute of Psychiatry, Psychology & Neuroscience, King's College London, National Yang Ming University (NYMU), Department of Information and Communications Engineering [Murcia], Universidad de Murcia, Guy's Hospital [London], Cyprus Institute of Neurology and Genetics, University of Ottawa [Ottawa], The Ottawa Hospital, University of British Columbia (UBC), Ottawa Hospital Research Institute [Ottawa] (OHRI), Institute of Neurology, Queen Square, London, Sahlgrenska University Hospital, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Department of Human Genetics, Ruhr University Bochum (RUB), Universitat de Barcelona (UB), Department of Medical and Surgical Pediatrics, University Hospital, Fondazione, Departments of Human Genetics & Neurology, Leiden University Medical Center (LUMC), University of Laquila, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Yale University School of Medicine, Department of Microbiology, Università degli studi di Catania [Catania], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gene Dx, Partenaires INRAE, Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Universita degli studi di Genova, Fondazione 'Policlinico Universitario A. Gemelli' [Rome], UCL Institute of neurology, UCL Institute of Neurology, Chelban V., Wilson M.P., Warman Chardon J., Vandrovcova J., Zanetti M.N., Zamba-Papanicolaou E., Efthymiou S., Pope S., Conte M.R., Abis G., Liu Y.-T., Tribollet E., Haridy N.A., Botia J.A., Ryten M., Nicolaou P., Minaidou A., Christodoulou K., Kernohan K.D., Eaton A., Osmond M., Ito Y., Bourque P., Jepson J.E.C., Bello O., Bremner F., Cordivari C., Reilly M.M., Foiani M., Heslegrave A., Zetterberg H., Heales S.J.R., Wood N.W., Rothman J.E., Boycott K.M., Mills P.B., Clayton P.T., Houlden H., Kriouile Y., Khorassani M.E., Aguennouz M., Groppa S., Marinova Karashova B., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., van den Maagdenberg A.M.J.M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Rothman J., Giunti P., Salpietro V., Oconnor E., Kullmann D., Kaiyrzhanov R., Sullivan R., Khan A.M., Yau W.Y., Hostettler I., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Lim S.-Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Torti E., Zollo M., Heimer G., Dauvilliers Y.A., Striano P., Al-Khawaja I., Al-Mutairi F., Alkuraya F.S., Sherifa H., Rizig M., Okubadejo N.U., Ojo O.O., Oshinaike O.O., Wahab K., Bello A.H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Oguntunde O., Pchelina S., Senkevich K., Haridy N., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Bourinaris T., Xiromerisiou G., Fidani L., Spanaki C., and Tucci A.

Subjects
0301 basic medicine, Male, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, LOCAL TRANSLATION, Medizin, medicine.disease_cause, DISEASE, chemistry.chemical_compound, 0302 clinical medicine, polineuropathy, Cinètica enzimàtica, Gene Regulatory Networks, Pyridoxal phosphate, Child, Pyridoxal Kinase, Adenosine triphosphate (ATP), Research Articles, Aged, 80 and over, Mutation, Gene Regulatory Network, PLASMA, Autosomal recessive axonal polyneuropathy, Disease gene identification, Pyridoxal kinase, 3. Good health, Settore MED/26 - NEUROLOGIA, Neuropaties perifèriques, Treatment Outcome, Polyneuropathie, Neurology, Child, Preschool, Pyridoxal Phosphate, RELIABILITY, Vitamin B Complex, Female, Life Sciences & Biomedicine, Polyneuropathy, Human, Research Article, Adult, Adolescent, PDXK, Clinical Neurology, CHARCOT-MARIE-TOOTH, CHARCOT-MARIE-TOOTH, CMT NEUROPATHY SCORE, LOCAL TRANSLATION, DISEASE, RELIABILITY, MECHANISMS, DISCOVERY, FRAMEWORK, KINASE, PLASMA, MECHANISMS, 03 medical and health sciences, Polyneuropathies, Atrophy, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], KINASE, medicine, Humans, CMT NEUROPATHY SCORE, PDXK mutations, Pyridoxal, Dietary Supplement, Aged, Peripheral neuropathies, Science & Technology, [SCCO.NEUR]Cognitive science/Neuroscience, Enzyme kinetics, Neurosciences, FRAMEWORK, medicine.disease, Molecular biology, 030104 developmental biology, chemistry, DISCOVERY, Dietary Supplements, Neurosciences & Neurology, Neurology (clinical), Adenosine triphosphate, 030217 neurology & neurosurgery
Abstract

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating scales, electrophysiology, and biochemical quantification. RESULTS: We identified biallelic mutations in PDXK in 5 individuals from 2 unrelated families with primary axonal polyneuropathy and optic atrophy. The natural history of this disorder suggests that untreated, affected individuals become wheelchair-bound and blind. We identified conformational rearrangement in the mutant enzyme around the ATP-binding pocket. Low PDXK ATP binding resulted in decreased erythrocyte PDXK activity and low pyridoxal 5'-phosphate (PLP) concentrations. We rescued the clinical and biochemical profile with PLP supplementation in 1 family, improvement in power, pain, and fatigue contributing to patients regaining their ability to walk independently during the first year of PLP normalization. INTERPRETATION: We show that mutations in PDXK cause autosomal recessive axonal peripheral polyneuropathy leading to disease via reduced PDXK enzymatic activity and low PLP. We show that the biochemical profile can be rescued with PLP supplementation associated with clinical improvement. As B6 is a cofactor in diverse essential biological pathways, our findings may have direct implications for neuropathies of unknown etiology characterized by reduced PLP levels. ANN NEUROL 2019;86:225-240. ispartof: ANNALS OF NEUROLOGY vol:86 issue:2 pages:225-240 ispartof: location:United States status: published

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