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Table 1 Donor information and radiological findings

From: In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations

Patient

Gender

Age (years)

Diagnosis

LIS grading [35]

Cerebral cortex

Corpus callosum

Cerebellum

Basal ganglia

Brain stem

Clinical information

Same mutation reported previously

A

Male

0

Microlissencephaly with cerebellar hypoplasia

Grade 1

Lissencephaly

Agenesis

Hypoplastic

Hypoplastic

Hypoplastic

Brain stem dysfunction, seizure, and developmental delay. Died at 2 years old.

Kumar RA et al. [5]

B

Male

2

Lissencephaly

Grade 4

Agyria-pachygyria (posterior > anterior gradient)

Present, abnormal

Not hypoplastic

Hypoplastic

Not hypoplastic

Intellectual delay and intractable seizures. Word speech at 3 years old. Has survived for 4 years now.

Keays DA et al. [4]