Atypical Hemifacial Spasm and Myoclonus Related to AIFM1 Variant

[en] Description (and video) of an atypical hemispasm followed by myoclonus in a child affected by AIFM1 variant (cerebellar ataxia, vermian atrophy, polyneuropathy)
[fr] Description (et illustration par vidéo) d'un hémispasme facial atypique, suivi de l'apparition de myoclonies, chez un enfant atteint d'une mutation du gène AIFM1 (et présentant une ataxie cérébelleuse, une atrophie vermienne et une polyneuropathie)

Disciplines :

Neurology

Author, co-author :

DEPIERREUX, Frédérique ; Centre Hospitalier Universitaire de Liège - CHU > > Service de neurologie

ALKAN, Serpil ; Université de Liège - ULiège > Département des sciences cliniques > Médecine générale

Language :

English

Title :

Atypical Hemifacial Spasm and Myoclonus Related to AIFM1 Variant

Alternative titles :

[fr] Hémispasme facial atypique et myoclonies liées à un variant AIFM1

Publication date :

09 March 2022

Journal title :

Neuropediatrics

ISSN :

0174-304X

eISSN :

1439-1899

Publisher :

Georg Thieme Verlag, Germany

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 09 March 2022

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Bibliography

1 Pandolfo M. Rai M. Remiche G. Desmyter L. Vandernoot I. Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation Neurol Genet: 2020; 6 03 e420
2 Heimer G. Eyal E. Zhu X. Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin Eur J Paediatr Neurol: 2018; 22 01 93 101
3 Yaltho T C. Jankovic J. The many faces of hemifacial spasm: differential diagnosis of unilateral facial spasms Mov Disord: 2011; 26 09 1582 1592