EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44 [DD]

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44 [DD]?

Accepted Answer

rare
autosomal recessive
mutation in the UBA5 gene
UBA5 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation [Colin E et al. 2016]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Unbestimmte frühinfantile epileptische Enzephalopathie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617132

Question 4

Which enzymes are involved?

Accepted Answer

Ubiquitin-like modifier-activating enzyme 5 (UBA5)

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44 [DD]
OMIM	617132 OMIM = Online Mendelian Inheritance of Men
Orphanet	442835
Protein (UniProt)	Ubiquitin-like modifier-activating enzyme 5 (UBA5)
ExPASy	6.2.1.B9
Gene locus	3q22.1
ICD	G40.4
Summary	rare autosomal recessive mutation in the UBA5 gene UBA5 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation [Colin E et al. 2016]
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	abnormal movement cerebellar atrophy or hypoplasia cerebral atrophy dysmorphism dystonia EEG abnormalities [-] encephalopathy epilepsy eye defect beginning in infancy or childhood failure to thrive feeding difficulties, poor feeding hypotonia infantile spasms intellectual disability/intellectual developmental disorder irritability microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, infancy onset, neonatal seizures short stature