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

被引：6

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

页码：2063 / 2067

页数：5

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