A novel GABRB3 variant in Dravet syndrome: Case report and literature review

Autor: Piero Pavone, Xena Giada Pappalardo, Simona D. Marino, Laura Sciuto, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Maria Piccione, Raffaele Falsaperla

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)

Abstract Background Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), myoclonic‐atonic epilepsy (MAE),

Externí odkaz: https://doaj.org/article/83491ccb69c04d98ac03598604debf77

Steroid-therapy as therapeutic strategy for drug resistant epilepsies: A retrospective multicenter study

Autor: Raffaele Falsaperla, Simona D Marino, Agnese Suppiej, Marilena Vecchi, Alberto Verrotti di Pianella, Giovanni Farello, Alberto Spalice, Maurizio Elia, Orazio Spitaleri, Marco Micale, Janette Mailo, Martino Ruggieri, Riccardo Lubrano

Publikováno v: Neurology and Neuroscience Reports. 4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6cf3fcd78718b1ddccba90b3c6e9fae4
https://doi.org/10.15761/nnr.1000131

A novel GABRB3 variant in Dravet syndrome: Case report and literature review.

Autor: Pavone, Piero¹ (AUTHOR) ppavone@unict.it, Pappalardo, Xena Giada^2,3 (AUTHOR), Marino, Simona D.⁴ (AUTHOR), Sciuto, Laura¹ (AUTHOR), Corsello, Giovanni⁵ (AUTHOR), Ruggieri, Martino¹ (AUTHOR), Parano, Enrico² (AUTHOR), Piccione, Maria⁵ (AUTHOR), Falsaperla, Raffaele⁴ (AUTHOR)

Publikováno v: Molecular Genetics & Genomic Medicine. Nov2020, Vol. 8 Issue 11, p1-6. 6p.

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

Autor: Andrea D. Praticò, Piero Pavone, Catia Romano, Giovanni Corsello, Simona Domenica Marino, Martino Ruggieri, Silvia Marino, Raffaele Falsaperla, Agata Polizzi, Enrico Parano, Xena Giada Pappalardo

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
MOLECULAR GENETICS & GENOMIC MEDICINE 8 (2020). doi:10.1002/mgg3.1109
info:cnr-pdr/source/autori:Piero Pavone; Martino Ruggieri; Simona D. Marino; Giovanni Corsello; Xena Pappalardo; Agata Polizzi; Enrico Parano; Catia Romano; Silvia Marino; Andrea Domenico Pratico; Raffaele Falsaperla/titolo:Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy/doi:10.1002%2Fmgg3.1109/rivista:MOLECULAR GENETICS & GENOMIC MEDICINE/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:8
Molecular Genetics & Genomic Medicine

Background Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1‐BP6) are mapped to the 15q13 region and t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9864cb8496b0d2093efab7e69f6f77c5
https://doaj.org/article/7844a4c3d85e47098a766ef09fd592f5

Severe Psychotic Symptoms in Youth with PANS/PANDAS: Case-Series

Autor: Simona Domenica Marino, Raffaele Falsaperla, Silvia Marino, Rosario R. Trifiletti, Piero Pavone, Chiara Battaglia, Enrico Parano

Publikováno v: Journal of child and adolescent psychopharmacology (2020). doi:10.1089/cap.2020.0050
info:cnr-pdr/source/autori:Piero Pavone; Enrico Parano; Chiara Battaglia; Silvia Marino; Rosario Rich Trifiletti; Simona D Marino; Raffaele Falsaperla/titolo:Severe psychotic symptoms in youth with PANS%2FPANDAS: case-series/doi:10.1089%2Fcap.2020.0050/rivista:Journal of child and adolescent psychopharmacology/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume

Objectives: To report a case series of children presenting with episodes of abrupt onset psychotic symptoms presumably linked to pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) and pediatric acute-onse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdecee83035b9234420af39f082c2355
https://pubmed.ncbi.nlm.nih.gov/32700992