Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.

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PMID (PMCID)
24819041	MIXED_SAMPLE	Middle Aged
	Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
	Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R. Am J Med Genet A. 2014;164A(8):2084-90.
	NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype.
7873248	FEMALE
	[Status epilepticus in two patients with Sotos syndrome].
	Korematsu S, Goto K, Ishihara T, Ishiwa S, Izumi T, Ogawa T. No To Hattatsu. 1995;27(1):29-34.
	Clinical seizures and EEG abnormalities in patients with Sotos syndrome are sometimes noted, but they are usually mild.