EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55; EIEE55

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55; EIEE55?

Accepted Answer

very rare

autosomal recessive

mutation in the PIGP gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617599

Question 3

Which enzymes are involved?

Accepted Answer

Phosphatidylinositol N-acetylglucosaminyltransferase subunit P

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55; EIEE55
Synonym	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14; GPIBD14; PIGP-CDG
OMIM	617599 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Phosphatidylinositol N-acetylglucosaminyltransferase subunit P
ExPASy	2.4.1.198
Gene locus	21q22.13
ICD
Summary	very rare autosomal recessive mutation in the PIGP gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	contractures, joints defect of walking, running, rising or climbing EEG abnormalities [-] encephalopathy epilepsy feeding difficulties, poor feeding growth retardation, poor growth hyperreflexia hypotonia impaired visual acuity intellectual disability/intellectual developmental disorder microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, infancy psychomotor retardation seizures speech development, delayed, abnormal