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.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Total: 5

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PMID (PMCID)
29986434 (6073498)	MALE
	A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.
	Rapaccini V, Esposito S, Strinati F, Allegretti M, Manfroi E, Miconi F, Pitzianti M, Prontera P, Principi N, Pasini A. Int J Mol Sci. 2018;19(7):.
	Early infantile epileptic encephalopathies (EIEEs) are a group of neurological disorders characterized by early-onset refractory seizures, severe electroencephalographic abnormalities, and developmental delay or intellectual disability.
27599155	MIXED_SAMPLE	Infant
	CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.
	Lilles S, Talvik I, Noormets K, Vaher U, Ounap K, Reimand T, Sander V, Ilves P, Talvik T. Neuropediatrics. 2016;47(6):361-367.
	Cyclin-dependent kinase-like 5 (CDKL5) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual disability, and Rett-like features.
28503590 (5417033)	OTHER
	Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.
	Talvik I, Moller RS, Vaher M, Vaher U, Larsen LH, Dahl HA, Ilves P, Talvik T. Child Neurol Open. 2015;2(2):2329048X15583717.
	In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo GNAO1 mutation (c.692A>G; p.Tyr231Cys).
24938147	MALE	Infant
	Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations.
	Matsumoto H, Zaha K, Nakamura Y, Hayashi S, Inazawa J, Nonoyama S. Pediatr Neurol. 2014;51(1):170-5.
	Microdeletion of chromosome 9q33q34 is an emerging disease disorder associated with early infantile epileptic encephalopathy, intellectual disability, and a variety of movement disorders.
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.