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  1. Article: Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus.

    Hafdaoui, Sara / Ciaccio, Claudia / Castellotti, Barbara / Sciacca, Francesca L / Pantaleoni, Chiara / D'Arrigo, Stefano

    Frontiers in neurology

    2023  Volume 14, Page(s) 1199095

    Abstract: Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus, and the FERM ... ...

    Abstract Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus, and the FERM domain-containing gene (
    Language English
    Publishing date 2023-07-20
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2023.1199095
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  2. Article: Case report:

    Caputo, Davide / Franceschetti, Silvana / Castellotti, Barbara / Freri, Elena / Zorzi, G / Saletti, Veronica / Canafoglia, Laura / Granata, Tiziana

    Frontiers in neuroscience

    2023  Volume 17, Page(s) 1219244

    Abstract: We report the clinical and EEG data of two patients harboring ... ...

    Abstract We report the clinical and EEG data of two patients harboring heterozygous
    Language English
    Publishing date 2023-06-29
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2411902-7
    ISSN 1662-453X ; 1662-4548
    ISSN (online) 1662-453X
    ISSN 1662-4548
    DOI 10.3389/fnins.2023.1219244
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  3. Article ; Online: Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

    Solazzi, Roberta / Nanni, Giuliana / Esposito, Silvia / Estienne, Margherita / Freri, Elena / Zibordi, Federica / Canafoglia, Laura / Castellotti, Barbara / Granata, Tiziana

    Pediatric neurology

    2023  Volume 147, Page(s) 24–27

    Abstract: Allan-Herndon-Dudley syndrome (AHDS) is caused by mutations in the SLC16A2 gene, encoding for the monocarboxylate transporter 8 (MCT8). Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by ... ...

    Abstract Allan-Herndon-Dudley syndrome (AHDS) is caused by mutations in the SLC16A2 gene, encoding for the monocarboxylate transporter 8 (MCT8). Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by poor growth, intellectual disability, spastic tetraparesis, and movement disorders, including paroxysmal ones (startle reaction and paroxysmal dyskinesias). Seizures are rarely reported. We conducted a retrospective analysis on video electroencephalography (EEG) recordings in four subjects with AHDS, focused on paroxysmal events. Among other manifestations recorded on EEG, we diagnosed repetitive sleep starts (RSS) in all subjects. RSS are a paroxysmal nonepileptic phenomenon occurring during sleep, similar to epileptic spasms in their clinical and electromyography characteristics, but not related to any EEG change. This is the first report on RSS in AHDS. We present video-EEG polygraphic documentation, suggesting that RSS could be underestimated or misdiagnosed. The importance of a correct diagnosis is crucial in a therapeutic perspective.
    MeSH term(s) Humans ; Retrospective Studies ; Sleep-Wake Transition Disorders/complications ; Mental Retardation, X-Linked/genetics ; Mutation ; Muscle Hypotonia/genetics ; Muscular Atrophy/complications ; Monocarboxylic Acid Transporters/genetics ; Symporters/genetics
    Chemical Substances Monocarboxylic Acid Transporters ; SLC16A2 protein, human ; Symporters
    Language English
    Publishing date 2023-06-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639164-3
    ISSN 1873-5150 ; 0887-8994
    ISSN (online) 1873-5150
    ISSN 0887-8994
    DOI 10.1016/j.pediatrneurol.2023.06.012
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  4. Article: Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with

    Mosca, Ilaria / Freri, Elena / Ambrosino, Paolo / Belperio, Giorgio / Granata, Tiziana / Canafoglia, Laura / Ragona, Francesca / Solazzi, Roberta / Filareto, Ilaria / Castellotti, Barbara / Messina, Giuliana / Gellera, Cinzia / DiFrancesco, Jacopo C / Soldovieri, Maria Virginia / Taglialatela, Maurizio

    Frontiers in cellular neuroscience

    2024  Volume 18, Page(s) 1367838

    Abstract: ... Variants ... ...

    Abstract Variants in
    Language English
    Publishing date 2024-04-04
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2452963-1
    ISSN 1662-5102
    ISSN 1662-5102
    DOI 10.3389/fncel.2024.1367838
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  5. Article ; Online: Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity.

    Olivotto, Sara / Freddi, Anna / Lavatelli, Rossella / Basso, Eleonora / Leidi, Alessia / Castellotti, Barbara / Spaccini, Luigina / Bova, Stefania Maria / Veggiotti, Pierangelo

    Epilepsy & behavior reports

    2022  Volume 19, Page(s) 100544

    Abstract: Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe ... ...

    Abstract Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G > A) in GABRA1, already described in the literature and classified as "pathogenic" according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures. To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case.
    Language English
    Publishing date 2022-04-20
    Publishing country United States
    Document type Journal Article
    ISSN 2589-9864
    ISSN (online) 2589-9864
    DOI 10.1016/j.ebr.2022.100544
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  6. Article ; Online: Epilepsy and NREM-parasomnia caused by novel hemizygous ARHGEF9 mutation.

    Freri, Elena / Castellotti, Barbara / Didato, Giuseppe / DiFrancesco, Jacopo C / Granata, Tiziana

    Sleep medicine

    2020  Volume 76, Page(s) 158–159

    MeSH term(s) Adolescent ; Epilepsy/diagnosis ; Epilepsy/genetics ; Humans ; Male ; Mutation ; Parasomnias/diagnosis ; Parasomnias/genetics ; Rho Guanine Nucleotide Exchange Factors/genetics
    Chemical Substances ARHGEF9 protein, human ; Rho Guanine Nucleotide Exchange Factors
    Language English
    Publishing date 2020-11-07
    Publishing country Netherlands
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 2012041-2
    ISSN 1878-5506 ; 1389-9457
    ISSN (online) 1878-5506
    ISSN 1389-9457
    DOI 10.1016/j.sleep.2020.11.003
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    Zs.A 5315: Show issues Location:
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    Zs.MO 635: Show issues

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  7. Article ; Online: A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.

    Ambrosino, Paolo / Ragona, Francesca / Mosca, Ilaria / Vannicola, Chiara / Canafoglia, Laura / Solazzi, Roberta / Rivolta, Ilaria / Freri, Elena / Granata, Tiziana / Messina, Giuliana / Castellotti, Barbara / Gellera, Cinzia / Soldovieri, Maria Virginia / DiFrancesco, Jacopo Cosimo / Taglialatela, Maurizio

    Epilepsia

    2023  Volume 64, Issue 7, Page(s) e148–e155

    Abstract: Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy and ataxia due to potassium channel mutation, are caused by pathogenetic variants in KCNC1, encoding for Kv3.1 channel subunits. In vitro, ... ...

    Abstract Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy and ataxia due to potassium channel mutation, are caused by pathogenetic variants in KCNC1, encoding for Kv3.1 channel subunits. In vitro, channels carrying most KCNC1 pathogenic variants display loss-of-function features. Here, we describe a child affected by DEE with fever-triggered seizures, caused by a novel de novo heterozygous missense KCNC1 variant (c.1273G>A; V425M). Patch-clamp recordings in transiently transfected CHO cells revealed that, compared to wild-type, Kv3.1 V425M currents (1) were larger, with membrane potentials between -40 and +40 mV; (2) displayed a hyperpolarizing shift in activation gating; (3) failed to inactivate; and (4) had slower activation and deactivation kinetics, consistent with a mixed functional pattern with prevalent gain-of-function effects. Exposure to the antidepressant drug fluoxetine inhibited currents expressed by both wild-type and mutant Kv3.1 channels. Treatment of the proband with fluoxetine led to a rapid and prolonged clinical amelioration, with the disappearance of seizures and an improvement in balance, gross motor skills, and oculomotor coordination. These results suggest that drug repurposing based on the specific genetic defect may provide an effective personalized treatment for KCNC1-related DEEs.
    MeSH term(s) Cricetinae ; Animals ; Fluoxetine/therapeutic use ; Cricetulus ; Precision Medicine ; Gain of Function Mutation ; Seizures/genetics ; Epilepsies, Myoclonic/drug therapy ; Epilepsies, Myoclonic/genetics ; Seizures, Febrile
    Chemical Substances Fluoxetine (01K63SUP8D)
    Language English
    Publishing date 2023-06-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17656
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    Zs.A 517: Show issues Location:
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    Zs.MO 475: Show issues

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  8. Article ; Online: Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.

    Castellotti, Barbara / Canafoglia, Laura / Freri, Elena / Tappatà, Maria / Messina, Giuliana / Magri, Stefania / DiFrancesco, Jacopo C / Fanella, Martina / Di Bonaventura, Carlo / Morano, Alessandra / Granata, Tiziana / Gellera, Cinzia / Franceschetti, Silvana / Michelucci, Roberto

    Epilepsia open

    2023  Volume 8, Issue 2, Page(s) 645–650

    Abstract: Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly involved, with ... ...

    Abstract Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly involved, with truncating mutations causing the production of aberrant proteins with toxic gain of function. Herein, we describe three adjunctive patients carrying de novo truncating SEMA6B variants in this exon (c.1976delC and c.2086C > T novel; c.1978delC previously reported). These subjects presented with PME preceded by developmental delay, motor and cognitive impairment, worsening myoclonus, and epilepsy with polymorphic features, including focal to bilateral seizures in two, and non-convulsive status epilepticus in one. The evidence of developmental delay in these cases suggests their inclusion in the "PME plus developmental delay" nosological group. This work further expands our knowledge of SEMA6B variants causing PMEs. However, the data to date available confirms that phenotypic features do not correlate with the type or location of variants, aspects that need to be further clarified by future studies.
    MeSH term(s) Humans ; Myoclonic Epilepsies, Progressive/genetics ; Epilepsy ; Myoclonus ; Mutation/genetics ; Phenotype ; Semaphorins/genetics
    Chemical Substances SEMA6B protein, human ; Semaphorins
    Language English
    Publishing date 2023-02-09
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2470-9239
    ISSN (online) 2470-9239
    DOI 10.1002/epi4.12697
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  9. Article ; Online: Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia.

    DiFrancesco, Jacopo C / Isimbaldi, Giuseppe / Bedeschi, Maria Francesca / Castellotti, Barbara

    BMJ case reports

    2018  Volume 2018

    Abstract: Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations ... ...

    Abstract Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in
    MeSH term(s) Adult ; Biopsy ; Bone Diseases, Developmental/complications ; Bone Diseases, Developmental/diagnosis ; Bone Diseases, Developmental/pathology ; Brain/diagnostic imaging ; Craniofacial Abnormalities/complications ; Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/pathology ; Humans ; Hyperostosis/complications ; Hyperostosis/diagnosis ; Hyperostosis/pathology ; Hypertelorism/complications ; Hypertelorism/diagnosis ; Hypertelorism/pathology ; Magnetic Resonance Imaging ; Male ; Multiple Sclerosis, Relapsing-Remitting/complications ; Multiple Sclerosis, Relapsing-Remitting/diagnosis
    Language English
    Publishing date 2018-02-14
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2017-223390
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  10. Article ; Online: Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult-onset Krabbe disease.

    Tagliapietra, Matteo / Crescenzo, Francesco / Castellotti, Barbara / Gellera, Cinzia / Polo, Diana / Cavallaro, Tiziana / Zanette, Giampietro / Fabrizi, Gian Maria

    Muscle & nerve

    2021  Volume 63, Issue 4, Page(s) E33–E35

    MeSH term(s) Humans ; Leukodystrophy, Globoid Cell/diagnosis ; Leukodystrophy, Globoid Cell/pathology ; Magnetic Resonance Imaging/methods ; Male ; Middle Aged ; Nervous System Diseases/diagnosis ; Nervous System Diseases/pathology ; Nervous System Malformations/diagnosis ; Nervous System Malformations/pathology ; Peripheral Nerves/pathology ; Ultrasonography/methods
    Language English
    Publishing date 2021-02-05
    Publishing country United States
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.27175
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    Zs.MO 551: Show issues

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