Developmental and Epileptic Encephalopathy 72 (DEE72)

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OMIM®: ⁵⁷ Developmental and epileptic encephalopathy-72 (DEE72) is neurologic disorder characterized by the onset of infantile spasms around 5 months of age. The seizures tend to be refractory to treatment. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills. Additional more variable features include hyperkinetic movements and cortical visual impairment (summary by Sega et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618374) (Updated 08-Dec-2022)

MalaCards based summary: Developmental and Epileptic Encephalopathy 72, is also known as dee72. An important gene associated with Developmental and Epileptic Encephalopathy 72 is NEUROD2 (Neuronal Differentiation 2). Affiliated tissues include eye, and related phenotypes are dysphagia and global developmental delay

UniProtKB/Swiss-Prot: ⁷³ A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE72 is an autosomal dominant form with variable severity and onset in infancy.

Disease Ontology: ¹¹ A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has material basis in heterozygous mutation in NEUROD2 on chromosome 17q12.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Developmental and Epileptic Encephalopathy 72