C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report.

ABSTRACT:

Introduction

Hyperekplexia is a rare hereditary neurological disorder; only 5 glycine receptor alpha 1 subunit gene (GLRA1) mutations have been reported in 5 Chinese patients. We report a Chinese infant with hyperekplexia and a novel mutation at c.292G > A.

Patient concerns

A Chinese infant with hyperekplexia and a novel mutation at c.292G > A.

Diagnosis

All exons of GLRA1 were sequenced in her parents and her, which revealed a mutation at c.1030C > T and another novel mutation at c.292G > A. Her diagnosis was confirmed as hereditary hyperekplexia with GlRA1 hybrid gene mutations based on the sequencing results.

Interventions

She was treated with clonazepam.

Outcomes

Her muscle hypertonia recovered rapidly and the excessive startle reflex to unexpected s

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC7220787 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature