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Ohtahara syndrome (OS), also known as Early Infantile Developmental & Epileptic Encephalopathy (EIDEE) [2] is a progressive epileptic encephalopathy.The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life, [3] and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG).
Infantile epileptic spasms syndrome (IESS) previously known as West syndrome needs the inclusion of epileptic spasms for diagnosis. [1] Epileptic spasms (also known as infantile spasms) may also occur outside of a syndrome (that is, in the absence of hypsarrhythmia and cognitive regression) - notably in association with severe brain disorders (e.g. lissencephaly).
Benign infantile epilepsy (BIE), also known as benign infantile seizures (BIS), is an epilepsy syndrome of which several forms have been described. The International League Against Epilepsy (ILAE) classify two main forms of the syndrome (familial and nonfamilial) [1] though several other forms have been described in the academic literature.
Salt and pepper developmental regression syndrome, also known as Amish infantile epileptic syndrome [4] or GM3 deficiency syndrome, [5] is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities.
The 2023 edition of ICD-10-CM F78.A1 became effective on October 1, 2022. This is the American ICD-10-CM version of F78.A1 - other international versions of ICD-10 F78.A1 may differ. On August 11, 2021, SYNGAP1 -related Disorders was included in the Social Security Administration list of diseases for Compassionate Use .
Infantile convulsions and choreoathetosis (ICCA) syndrome is a neurological genetic disorder with an autosomal dominant mode of inheritance. It is characterized by the association of benign familial infantile epilepsy (BIFE) at age 3–12 months and later in life with paroxysmal kinesigenic choreoathetosis .
Infantile epileptic spasms syndrome is the most common DEE that begins in early life. Infants present with a characteristic seizure type called infantile spasms (repetitive spells of body crunching, each spell lasting less than 2-3 seconds, but which occur in brief clusters).
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. [2] Other malformations of the brain and skeleton may also occur.