Characterization of Epilepsy and Neurodevelopmental disorders in familiar and sporadic cases of Poirier-Bienvenu Neurodevelopmental Syndrome

被引:0
|
作者
Stregapede, Fabrizia [1 ]
Terracciano, Allessandra [1 ]
Micalizzi, Alessia [1 ]
Trivisano, Marina [1 ]
De Dominicis, Angela [1 ]
Dentici, Marialisa [1 ]
Quintavalle, Chiara [1 ]
Cappelletti, Simona [1 ]
Specchio, Nicola [1 ]
Novelli, Antonio [1 ]
机构
[1] IRCCS Bambino Gesu Childrens Hosp, Rome, Italy
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
EP01.032
引用
收藏
页码:99 / 99
页数:1
相关论文
共 50 条
  • [31] Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders
    Julie Chow
    Matthew Jensen
    Hajar Amini
    Farhad Hormozdiari
    Osnat Penn
    Sagiv Shifman
    Santhosh Girirajan
    Fereydoun Hormozdiari
    Genome Medicine, 11
  • [32] HNRNPU: Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism
    Poot, Martin
    MOLECULAR SYNDROMOLOGY, 2018, 9 (06) : 275 - 278
  • [33] Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome
    Trivisano, Marina
    De Dominicis, Angela
    Stregapede, Fabrizia
    Quintavalle, Chiara
    Micalizzi, Alessia
    Cappelletti, Simona
    Dentici, Maria Lisa
    Sinibaldi, Lorenzo
    Calabrese, Costanza
    Terracciano, Alessandra
    Vigevano, Federico
    Novelli, Antonio
    Specchio, Nicola
    EPILEPSY & BEHAVIOR, 2023, 147
  • [34] Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders
    Chow, Julie
    Jensen, Matthew
    Amini, Hajar
    Hormozdiari, Farhad
    Penn, Osnat
    Shifman, Sagiv
    Girirajan, Santhosh
    Hormozdiari, Fereydoun
    GENOME MEDICINE, 2019, 11 (01)
  • [35] Behavioral Outcomes and Neurodevelopmental Disorders Among Children of Women With Epilepsy
    Cohen, Morris J.
    Meador, Kimford J.
    Loring, David W.
    Matthews, Abigail G.
    Brown, Carrie
    Robalino, Chelsea P.
    Birnbaum, Angela K.
    Voinescu, Paula E.
    Kalayjian, Laura A.
    Gerard, Elizabeth E.
    Gedzelman, Evan R.
    Hanna, Julie
    Cavitt, Jennifer
    Sam, Maria C.
    French, Jacqueline A.
    Hwang, Sean T.
    Pack, Alison M.
    Pennell, Page B.
    JAMA NEUROLOGY, 2024, 81 (01) : 19 - 29
  • [37] NEURODEVELOPMENTAL DISORDERS Mechanistic insights into Angelman's syndrome
    Bodo, Cristian
    NATURE REVIEWS NEUROSCIENCE, 2010, 11 (05) : 298 - 298
  • [38] Tourette syndrome and other neurodevelopmental disorders: a comprehensive review
    Cravedi, Elena
    Deniau, Emmanuelle
    Giannitelli, Marianna
    Xavier, Jean
    Hartmann, Andreas
    Cohen, David
    CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH, 2017, 11
  • [39] NEURODEVELOPMENTAL DISORDERS Signalling pathways of fragile X syndrome
    Jayaseelan, Sabarinath
    Tenenbaum, Scott A.
    NATURE, 2012, 492 (7429) : 359 - 360
  • [40] Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
    Benjamin D. Philpot
    Coral E. Thompson
    Lisa Franco
    Charles A. Williams
    Journal of Neurodevelopmental Disorders, 2011, 3 : 50 - 56