case_images: PMC5473401_01
case_images: Genetic imaging data.. (
  A) Pedigree and inheritance of the variants in
  TBC1D24, p.Pro135Leu; c.404C>T in exon 2 and p.Arg360Cys; c.1078C>T in exon 4 (NM_001199107.1). (
  B) Amino acid sequence alignment of both variants between species demonstrating that both amino acids are conserved between species. (
  C) T1-weighted sagittal MRI scan of brain, illustrating mild cerebellar atrophy affecting the superior vermis. (
  D) T2-weighted axial MRI scan of the brain showing mild atrophy of the hemispheres. (
  E) T1-weighted coronal MRI scan of the brain showing mild atrophy of the hemispheres.
case_images: f1000research-6-11410-g0000.jpg
case_images: PMC5473401_02_f1000research-6-11410-g0000.jpg
case_images: f1
case_images: A magnetic resonance imaging (MRI) test in 2014 showed mild cerebellar atrophy in the superior cerebellar vermis and the cerebellar hemispheres ( Figure 1C-D), and an overnight video EEG showed diffuse mild background slowing consistent with mild cerebral dysfunction, but no epileptiform activity was observed during the test. The patient's family history ( Figure 1A) is notable in that the mother (I:2) experienced general tonic-clonic seizures before the age of 5, but was not treated with anticonvulsants.
case_images: PMC5473401_02
case_images: Genetic imaging data.. (
  A) Pedigree and inheritance of the variants in
  TBC1D24, p.Pro135Leu; c.404C>T in exon 2 and p.Arg360Cys; c.1078C>T in exon 4 (NM_001199107.1). (
  B) Amino acid sequence alignment of both variants between species demonstrating that both amino acids are conserved between species. (
  C) T1-weighted sagittal MRI scan of brain, illustrating mild cerebellar atrophy affecting the superior vermis. (
  D) T2-weighted axial MRI scan of the brain showing mild atrophy of the hemispheres. (
  E) T1-weighted coronal MRI scan of the brain showing mild atrophy of the hemispheres.
case_images: f1000research-6-11410-g0000.jpg
case_images: PMC5473401_02_f1000research-6-11410-g0000.jpg
case_images: f1
case_images: A magnetic resonance imaging (MRI) test in 2014 showed mild cerebellar atrophy in the superior cerebellar vermis and the cerebellar hemispheres ( Figure 1C-D), and an overnight video EEG showed diffuse mild background slowing consistent with mild cerebral dysfunction, but no epileptiform activity was observed during the test. The patient's family history ( Figure 1A) is notable in that the mother (I:2) experienced general tonic-clonic seizures before the age of 5, but was not treated with anticonvulsants.