ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

A heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 have been previously described. Here we report two cases of infantile‐onset cerebellar ataxia, due to two different ATP1A3 variants. Both patients showed slowly progressive cerebellar ataxia without paroxysmal or episo...

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Veröffentlicht in:	Developmental medicine and child neurology 2021-01, Vol.63 (1), p.111-115
Hauptverfasser:	Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Atrophy - pathology Case Series Cerebellar Ataxia - genetics Cerebellar Ataxia - pathology Cerebellar Ataxia - physiopathology Cerebellar Cortex - diagnostic imaging Cerebellar Cortex - pathology Child Female Humans Magnetic Resonance Imaging Male Phenotype Sodium-Potassium-Exchanging ATPase - genetics Whole Exome Sequencing
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