Literature DB >> 28551036

A patient with Muenke syndrome manifesting migrating neonatal seizures.

Yukimune Okubo1, Taro Kitamura2, Mai Anzai3, Wakaba Endo3, Takehiko Inui3, Yusuke Takezawa4, Sato Suzuki-Muromoto3, Takuya Miyabayashi3, Noriko Togashi3, Hiroshi Oba5, Hirotomo Saitsu6, Naomichi Matsumoto7, Kazuhiro Haginoya3.   

Abstract

We report a patient with Muenke syndrome who had repetitive apneic spell followed by focal status epilepticus in the early infancy. Ictal EEG showed focal spikes bursts originated from the left hemisphere and sifted to the right hemisphere, during which he had migrating tonic seizures from right side of the body to the left side of the body. Brain MRI showed abnormal development of bilateral hippocampus, which was characterized as abnormal folding of hippocampal gyri. However, the long-term seizure prognosis was favorable. Results from this and previous studies failed to support the notion that FGFR3 (P250) mutation results in epileptic encephalopathy.
Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Entities:  

Keywords:  FGFR3; MRI; Muenke syndrome; Neuroimaging; Temporal lobe dysgenesis

Mesh:

Year:  2017        PMID: 28551036     DOI: 10.1016/j.braindev.2017.05.007

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  2 in total

1.  Muenke syndrome: Medical and surgical comorbidities and long-term management.

Authors:  Chaya N Murali; Donna M McDonald-McGinn; Tara Lynn Wenger; Carey McDougall; Bridget M Stroup; Sarah E Sheppard; Jesse Taylor; Scott P Bartlett; Elizabeth J Bhoj; Elaine H Zackai; Avni Santani
Journal:  Am J Med Genet A       Date:  2019-05-20       Impact factor: 2.802

2.  FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.

Authors:  Maxence Cornille; Stéphanie Moriceau; Roman H Khonsari; Yann Heuzé; Léa Loisay; Valérie Boitez; Anne Morice; Eric Arnaud; Corinne Collet; Morad Bensidhoum; Nabil Kaci; Nathalie Boddaert; Giovanna Paternoster; Theresa Rauschendorfer; Sabine Werner; Suzanne L Mansour; Federico Di Rocco; Franck Oury; Laurence Legeai-Mallet
Journal:  J Exp Med       Date:  2022-03-07       Impact factor: 17.579

  2 in total

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