Abstracts

Rationale: PIGQ gene mutation is associated with Early Infantile Epileptic Encephalopathy (EIEE) especially in Otahara syndrome2, 4. After thorough literature review, one case report was found of a West African child of non-consangious parents who presented with EIEE and profound psychomotor delay2. He had Otohara syndrome with EEG showing burst suppression. He was found to have PIGQ gene: NM_004204:exon3:c.690–2A>G by Whole Exome sequence2 Methods: We present another case of Epileptic Encephalopathy who was found to have a novel PIGQ mutation. Results: CASE: 2 years old boy following in neurology clinic due to uncontrolled epilepsy. He was born full term after uneventful pregnancy by Caesarean section due to failure to progress and had Meconium aspiration syndrome. His Apgar score was 1 and 8 at 1 and 5 minutes. He needed NICU admission but not intubation. He developed seizures at 2 months of age which were multiple episodes of focal seizures, alternating on both sides. Trial of multiple antiepileptic medications with appropriate doses was unsuccessful in controlling his seizures. He also has history of status epilepticus. He has gross psychomotor delay as he is not fixing or following, only babbling, and no social smile and has poor head control. He is the first child of consangious parents with no family history of epilepsy or developmental delay. On examination, he is microcephalic with no dysmorphism and has normal tone and brisk reflexes in all the limbs. His metabolic workup, including ammonia, lactate, Tandem MS, Amino acid, Biotinidase, urine organic acid was normal. Imaging of the brain didn’t show any structural malformation. His EEG showed diffuse cortical dysfunction with slow background and frequent multifocal epileptiform discharges. WHOLE EXOME SEQUENCE showed: PIGQ: Chr 16(GRCh37):g 624693C>T,NM_148920.2: c,619 C>T(p(Arg207*))Homozygous Conclusions: To the best of our knowledge, this is the second case reported with PIGQ gene epileptic encephalopathy with a novel mutation. To consider epileptic encephalopathy due to PIGQ gene mutation in early infantile intractable epilepsy, microcephaly and global developmental delay. REFERENCE: 1. Hong, Y., Ohishi, K., Watanabe, R., Endo, Y., Maeda, Y., Kinoshita, T.GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.J. Biol. Chem. 274: 18582-18588, 1999. 2. Martin, H. C., Kim, G. E., Pagnamenta, A. T., Murakami, Y., Carvill, G. L., Meyer, E., Copley, R. R., Rimmer, A., Barcia, G., Fleming, M. R., Kronengold, J., Brown, M. R., and 21 others. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.Hum. Molec. Genet. 23: 3200-3211, 2014 3. Watanabe R, Kinoshita T, Masaki R, et al. (1996). "PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum". J. Biol. Chem. 271 (43): 26868–75. 4. Marina C. Gonsales, Maria Augusta Montenegro, Camila V. Soler, Ana Carolina Coan, Marilisa M. Guerreiro, Iscia Lopes-Cendes , Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice, Arq. Neuro-Psiquiatr. vol.73 no.11 São Paulo Nov. 2015 Epub Oct 06, 2015 Funding: None.