Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?

被引：5
|
作者：
Bernardo, Pia [1 ,2 ,3 ]
Budetta, Mauro [4 ]
Aliberti, Ferdinando [1 ]
Carpentieri, Maria Luisa [4 ]
De Brasi, Daniele [5 ]
Sorrentino, Livio [4 ]
Russo, Carmela [6 ]
D'amico, Alessandra [7 ]
Cinalli, Giuseppe [1 ]
Santoro, Claudia [8 ,9 ]
Coppola, Antonietta [10 ]
机构：
[1] Santobono Pausilipon Childrens Hosp, Dept Neurosci & Neurosurg, Naples, Italy
[2] Univ Naples Federico II, Pediat Sect, Dept Translat Med Sci, Naples, Italy
[3] Santobono Pausilipon Childrens Hosp, Dept Neurosci, Pediat Psychiat & Neurol Unit, Naples, Italy
[4] Cava Tirreni AOU S Giovanni Dio & Ruggiero Aragon, Paediat & Child Neurol Unit, Salerno, Italy
[5] AORN Santobono Pausilipon, Dept Pediat, Naples, Italy
[6] Santobono Pausilipon Childrens Hosp, Dept Neurosci, Dept Neuroradiol, Naples, Italy
[7] Univ Federico II, Dept Adv Biomed Sci, Naples, Italy
[8] Luigi Vanvitelli Univ Campania, Dept Woman & Child, Referral Ctr Neurofibromatosis, Naples, Italy
[9] Univ Campania Luigi Vanvitelli, Dept Mental Hlth Phys & Prevent Med, Clin Child & Adolescent Neuropsychiat, Naples, Italy
[10] Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Epilepsy Ctr, Naples, Italy
来源：
NEUROLOGICAL SCIENCES | 2021年 / 42卷 / 05期
关键词：
FGFR3; mutations; Focal epilepsy; Temporal lobe malformations; MUENKE-SYNDROME; DYSGENESIS; HYPOCHONDROPLASIA; PHENOTYPE;
D O I：
10.1007/s10072-020-04923-3
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Temporal lobe abnormalities and focal epilepsy have been documented in FGFR3-related clinical condition, including hypochondroplasia and Muenke syndrome. FGFR3 is expressed in the brain during development and could play a role in nervous system development and hippocampal formation. These observations suggest a non-casual association between temporal malformation, epilepsy, and FGFR3 mutations. Herein, we report clinical, electroclinical, and neuroimaging findings of three additional cases of focal epilepsy and temporal lobe malformations occurring in children with FGFR3 gene mutations.
引用
收藏
页码：2063 / 2067
页数：5
相关论文
共 34 条
  • [1] Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
    Pia Bernardo
    Mauro Budetta
    Ferdinando Aliberti
    Maria Luisa Carpentieri
    Daniele De Brasi
    Livio Sorrentino
    Carmela Russo
    Alessandra D’amico
    Giuseppe Cinalli
    Claudia Santoro
    Antonietta Coppola
    [J]. Neurological Sciences, 2021, 42 : 2063 - 2067
  • [2] FGFR3 mutations and medial temporal lobe dysgenesis
    Kannu, Peter
    Aftimos, Salim
    [J]. JOURNAL OF CHILD NEUROLOGY, 2007, 22 (02) : 211 - 213
  • [3] Does the Co-occurrence of FGFR3 Gene Mutation in Hypochondroplasia, Medial Temporal Lobe Dysgenesis, and Focal Epilepsy Suggest a Syndrome?
    Romeo, Antonino
    Lodi, Monica
    Viri, Maurizio
    Parente, Eliana
    Baldi, Maurizia
    Righini, Andrea
    Milani, Donatella
    [J]. PEDIATRIC NEUROLOGY, 2014, 50 (04) : 427 - 430
  • [4] Temporal lobe epilepsy and hippocampal malrotation: Is there a causal association?
    Yeghiazaryan, Nune S.
    Morana, Giovanni
    Rossi, Andrea
    [J]. EPILEPSY & BEHAVIOR, 2010, 18 (04) : 502 - 504
  • [5] FGFR3 mutations, but not FGFR3 expression and FGFR3 copy-number variations, are associated with favourable non-muscle invasive bladder cancer
    Neuzillet, Yann
    van Rhijn, Bas W. G.
    Prigoda, Nadia L.
    Bapat, Bharati
    Liu, Liyang
    Bostrom, Peter J.
    Fleshner, Neil E.
    Gallie, Brenda L.
    Zlotta, Alexandre R.
    Jewett, Michael A. S.
    van der Kwast, Theo H.
    [J]. VIRCHOWS ARCHIV, 2014, 465 (02) : 207 - 213
  • [6] Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation
    Philpott, Cristina M.
    Widjaja, Elysa
    Raybaud, Charles
    Branson, Helen M.
    Kannu, Peter
    Blaser, Susan
    [J]. PEDIATRIC RADIOLOGY, 2013, 43 (09) : 1190 - 1195
  • [7] Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation
    Cristina M. Philpott
    Elysa Widjaja
    Charles Raybaud
    Helen M. Branson
    Peter Kannu
    Susan Blaser
    [J]. Pediatric Radiology, 2013, 43 : 1190 - 1195
  • [8] FGFR3 mutations, but not FGFR3 expression and FGFR3 copy-number variations, are associated with favourable non-muscle invasive bladder cancer
    Yann Neuzillet
    Bas W. G. van Rhijn
    Nadia L. Prigoda
    Bharati Bapat
    Liyang Liu
    Peter J. Bostrom
    Neil E. Fleshner
    Brenda L. Gallie
    Alexandre R. Zlotta
    Michael A. S. Jewett
    Theo H. van der Kwast
    [J]. Virchows Archiv, 2014, 465 : 207 - 213
  • [9] FGFR3 mutations in prostate cancer: association with low-grade tumors
    Hernandez, Silvia
    de Muga, Silvia
    Agell, Laia
    Juanpere, Nuria
    Esgueva, Raquel
    Lorente, Jose A.
    Mojal, Sergi
    Serrano, Sergio
    Lloreta, Josep
    [J]. MODERN PATHOLOGY, 2009, 22 (06) : 848 - 856
  • [10] FGFR3 mutations in non-muscle invasive bladder cancer: Prevalence and association with outcome - results of the epicuro study
    Hernandez-Llodra, Silvia
    Lopez-Knowles, Elena
    Lloreta, Josep
    Kogevinas, Manolis
    Amoros, Alex
    Tardon, Adonina
    Serra, Consol
    Garcia-Closas, Reina
    Carrato, Alfredo
    Malats, Nuria
    Real, Francisco X.
    [J]. CANCER RESEARCH, 2006, 66 (08)
1234