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.

Encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.

合計: 6

（表示件数）

PMID (PMCID)
28687180	MALE	Infant, Newborn
	A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.
	Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, Osaka H, Yamagata T. Brain Dev. 2018;40(1):69-73.
	The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies.
29961512	FEMALE
	Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
	Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V. Semin Pediatr Neurol. 2018;26:28-32.
	Early infantile epileptic encephalopathy (EIEE1; OMIM #308350) is the earliest of these age-dependent encephalopathies, manifesting as tonic spasms, myoclonic seizures, or partial seizures, with severely abnormal electroencephalogram, often showing a suppression-burst pattern.
29625812	MALE	Infant
	SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.
	Su DJ, Lu JF, Lin LJ, Liang JS, Hung KL. Brain Dev. 2018;40(8):724-727.
	SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS).
28302194	MALE	Infant, Newborn
	[Clinical and molecular genetic study of nonketotic hyperglycinemia in a Chinese family].
	Gao ZJ, Jiang Q, Chen Q, Xu KM. Zhongguo Dang Dai Er Ke Za Zhi. 2017;19(3):268-271.
	The infant presented with an onset of early metabolic encephalopathy and Ohtahara syndrome.
25296925	FEMALE	Infant
	Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.
	Guerin A, Aziz AS, Mutch C, Lewis J, Go CY, Mercimek-Mahmutoglu S. J Child Neurol. 2015;30(9):1218-25.
	Pyridox(am)ine-5-phosphate oxidase deficiency should be included in the differential diagnosis of Ohtahara syndrome and neonatal myoclonic encephalopathy as a treatable underlying cause.
25819767	MALE
	Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.
	Kato T, Morisada N, Nagase H, Nishiyama M, Toyoshima D, Nakagawa T, Maruyama A, Fu XJ, Nozu K, Wada H, Takada S, Iijima K. Brain Dev. 2015;37(9):911-5.
	CDKL5-related encephalopathy is an X-linked dominantly inherited disorder that is characterized by early infantile epileptic encephalopathy or atypical Rett syndrome.