New presentation of CLIFAHDD syndrome with a novel variant in NALCN gene: A report of a rare case.

Bita Hashemi,Richard J Huntsman,Huan Li,Dapeng Zhang,Yanwei Xi

Clinical case reports（2023）

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Abstract

This study resulted in identification of a novel variant in gene leading to autosomal dominant CLIFAHDD syndrome. Our patient presented with a form of nonepileptic paroxysmal dyskinesia. This is a new phenotype that has not been described previously.

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Key words

CLIFAHDD syndrome, distal arthrogryposis, NALCN gene

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