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. 2022 Jul 23;9(8):1105. doi: 10.3390/children9081105

Table 1.

Clinical presentation of Case 1 (TUBB2B mutation) and Case 2 (TUBA1A mutation).

Case 1 Case 2
Gender, age Male, 23 years Male, 1 years 2 months
Age of seizure onset 1 h 4 h
Consanguinity no no
Prenatal history malformation of brain unremarkable
Epilepsy multifocal, refractory focal to generalized, recurrent
Hypotonia yes yes
Developmental delay global global
Skeletal involvement scoliosis unknown
Feeding gastrostomy oral
Mutation TUBB2B TUBA1A