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Early infantile epileptic encephalopathy

A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.

Psychomotor retardation

Total: 2

(per page)

PMID (PMCID)
25631041	MALE
	Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.
	Ortega-Moreno L, Giraldez BG, Verdu A, Garcia-Campos O, Sanchez-Martin G, Serratosa JM, Guerrero-Lopez R. Neurologia. 2016;31(8):523-7.
	Ohtahara syndrome (OS, OMIM#308350, ORPHA1934) is an early-onset epileptic encephalopathy (EOEE) characterised by spasms, intractable seizures, suppression-burst pattern on the electroencephalogram, and severe psychomotor retardation.
21426321	MIXED_SAMPLE	Infant
	A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
	Eksioglu YZ, Pong AW, Takeoka M. Epilepsia. 2011;52(5):984-92.
	Reviewing records of patients with ARX mutations, infantile epilepsies, and psychomotor retardation, we analyzed a family harboring a novel ARX mutation with different phenotypes in males and females, including Ohtahara syndrome.