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.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Total: 3

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PMID (PMCID)
24315539	FEMALE	Infant, Newborn
	Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.
	Tso WW, Kwong AK, Fung CW, Wong VC. Pediatr Neurol. 2014;50(2):177-80.
	Ohtahara syndrome is a severe condition with early onset of recurrent unprovoked seizures associated with abnormal electroencephalography and global developmental delay.
23339110	MIXED_SAMPLE	Child
	Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.
	Edvardson S, Oz S, Abulhijaa FA, Taher FB, Shaag A, Zenvirt S, Dascal N, Elpeleg O. J Med Genet. 2013;50(2):118-23.
	Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability.
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.
	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.