SCIENTIFIC LETTER X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls Priyanka Madaan 1 & Sandeep Negi 1 & Rajni Sharma 2 & Anupriya Kaur 3 & Jitendra Kumar Sahu 1 Received: 21 July 2019 /Accepted: 6 August 2019 # Dr. K C Chaudhuri Foundation 2019 To the Editor: Structural etiology explains the preponderance of West syndrome, especially in developing countries [1]. With the advent of next-generation sequencing, there has been a paradigm shift in the understanding of genetic variations underlying West syndrome. Here, we report a girl with West syndrome and a rare pathogenic ALG13 gene variation. This is the first report of ALG13-related epileptic encephalopathy from India. A 9-mo-old girl presented with epileptic spasms and developmental regression. She was born of a non- consanguineous marriage, had an uneventful perinatal peri- od, and was developmentally normal till three months of age. Subsequently, she developed irritability with recurrent episodes of incessant crying for around one month. At five months of age, she started having epileptic flexor spasms in clusters and had a gradual socio-cognitive regression. Examination revealed microcephaly and hypotonia. Her electroencephalogram revealed hypsarrhythmia. She was di- agnosed as West syndrome. Magnetic resonance imaging of the brain was unremarkable. Metabolic workup was non- contributory. She was treated with adrenocorticotropic hormone (ACTH) therapy to which she responded. However, after discontinuation of ACTH, she had a relapse. She was again treated with longer-duration ACTH therapy (for about nine mo). She had remission of epileptic spams for around 18 mo. Currently, she is 30-mo-old and has infrequent seizures. She also has a significant socio- cognitive delay with autistic features for which she has been initiated on rehabilitative measures. Exome sequenc- ing revealed a heterozygous, X-linked dominant, likely pathogenic variation (chrX:110928268; c.320A > A/G; p.Asn107Ser) in ALG13 gene. The parental testing for this variation was negative. This rare ALG13 variation has a strong predilection for epileptic encephalopathy in females. Epilepsy Phenome/ Genome project, Epi4K project, and few iso- lated reports identified this variation in nine girls with early-infantile epileptic encephalopathy [2–4]. Affected females presented with epileptic encephalopathy, devel- opmental delay, visual impairment, dysmorphism (in some), and movement disorders. Also, other ALG13 var- iations are known to cause Congenital disorders of gly- cosylation (CDG) type Is in boys [5]. The index case highlights the responsiveness to hormonal therapy and a need for a longer therapy considering the tendency for relapse following discontinuation. Vigabatrin has been associated with increased frequency of epileptic spasms in a patient with this variation [2]. * Jitendra Kumar Sahu jsh2003@gmail.com 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 The Indian Journal of Pediatrics https://doi.org/10.1007/s12098-019-03059-3