PT  - JOURNAL ARTICLE
AU  - Fatima, Hera
AU  - Shabnam, Shabnam
AU  - Tripathi, Shalini
AU  - Kumar, Mala
TI  - Neonatal hyperekplexia: a non-epileptic paroxysmal movement disorder with a novel homozygous mutation in the GLRB gene, a seizure mimic
AID  - 10.1136/bcr-2023-257260
DP  - 2024 Oct 01
TA  - BMJ Case Reports
PG  - e257260
VI  - 17
IP  - 10
4099  - http://casereports.bmj.com/content/17/10/e257260.short
4100  - http://casereports.bmj.com/content/17/10/e257260.full
SO  - BMJ Case Reports2024 Oct 01; 17
AB  - A male baby born out of consanguineous marriage (third degree) to a primigravida mother presented to our hospital on day 21 of life as his third hospitalisation with jerky movements, respiratory distress and refusal to feed. The baby had blood culture-positive sepsis, which was treated adequately. He was given antiseizure therapy for jerky movements, but there was no response to multiple antiseizure therapy, and then pyridoxine was added. A significant response was noted with the addition of clonazepam. Neuroimaging and electroencephalogram were normal. The whole exome sequencing suggested a homozygous mutation (frameshift variant c.97delA in exon 2 of the GLRB gene) associated with hyperekplexia 2, resulting in the amino acid substitution p.Lys34fs*27.