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. 2019 Jul 1;6(7):1263–1272. doi: 10.1002/acn3.50822

Table 2.

Clinical features of patients with KCNC1 variants and Developmental Encephalopathy without seizures.

Patient 1 2 3
KCNC1 variant p.Arg317His p.Gln492X p.Gln492X
Gender M F M
Cognitive Function Mild ID Mild‐Moderate ID Mild‐moderate ID
Seizures No No No
Dysmorphic Features Nil Nil Nil
Neurological Features Autism Nil Nil
MRI Cerebellar and posterior pontine atrophy Not performed Not performed
EEG Rare generalized spike‐wave Not performed Not performed