X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls

Indian J Pediatr. 2019 Nov;86(11):1072-1073. doi: 10.1007/s12098-019-03059-3. Epub 2019 Aug 23.

Authors

Priyanka Madaan¹, Sandeep Negi¹, Rajni Sharma², Anupriya Kaur³, Jitendra Kumar Sahu⁴

Affiliations

¹ Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
² Department of Pediatrics, PGIMER, Chandigarh, India.
³ Division of Medical Genetics, Department of Pediatrics, PGIMER, Chandigarh, India.
⁴ Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India. jsh2003@gmail.com.

PMID: 31444733
DOI: 10.1007/s12098-019-03059-3

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Brain / diagnostic imaging
Exome
Female
Genetic Predisposition to Disease / genetics*
Genetic Variation
Humans
India
Infant
Magnetic Resonance Imaging
N-Acetylglucosaminyltransferases / genetics*
Seizures
Spasms, Infantile / diagnosis
Spasms, Infantile / genetics*
Spasms, Infantile / physiopathology
Vigabatrin

Substances

ALG13 protein, human
N-Acetylglucosaminyltransferases
Vigabatrin

Supplementary concepts

Infantile Epileptic-Dyskinetic Encephalopathy