A gain of function variant causes developmental delay and speech apraxia but not seizures

HIGHLIGHTS

• who: . and colleagues from the University College London, United Kingdom have published the research work: A gain of function variant causes developmental delay and speech apraxia but not seizures, in the Journal: (JOURNAL)

SUMMARY

Mutations of KV2.1 channels underlie epileptic encephalopathies, infantile epilepsy, autism and other neurodevelopmental disorders in identified individuals (Torkamani et_al, 2014; Saitsu et_al, 2015; Thiffault et_al, 2015; Calhoun et_al, 2017). More recent studies have extended identification of KV2.1 variants to 74 patients with 55 distinct missense or loss of function mutations (de Kovel et_al, 2017; Bar et_al, 2020 . . .

 



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