Skip to main content
. Author manuscript; available in PMC: 2021 Dec 11.
Published in final edited form as: J Child Neurol. 2021 Feb 9:883073820987742. doi: 10.1177/0883073820987742

Table 8:

Dysregulation of miscellaneous genes associated with GABAergic/glutamatergic signaling in cerebellum and frontal/parietal lobes of the patient

Gene Cere Frontal Parietal Comment
IL1β −3.78 −2.93 −9.86 Interleukin 1, β
ITPR1 −2.32 −2.4 Inositol 1,4,5-triphosphate receptor, type 1
P2RX7 −2.81 −2.03 Purinergic receptor P2X, ligand-gated ion channel, 7
ADCY7 −2.4 Adenylate cyclase 7
SHANK2 −2.08 −2.97 SH3 and multiple ankyrin repeat domains 2
ADORA2A −2.98 Adenosine A2a receptor
CACNA1A −2.21 Calcium channel, voltage dependent, P/Q type, α1A subunit
CACNA1B −3.02 Calcium channel, voltage dependent, N type, α1A subunit
CLN3 −2.17 Ceroid lipofuscinosis, neuronal 3
PLA2G6 −2.35 Phospholipase A2, group VI (cytosolic, Ca+2-independent
PLCB1 −2.11 Phospholipase C, β1 (phosphoinositide specific)
MAPKI 6.54 Mitogen-activated protein kinase 1
SNCA 5.08 4.88 6.52 Synuclein, α (non A4 component of amyloid precursor)
AVP −2.34 −2.95 Arginine vasopressin

All values shown significant at p<0.05. Negative, down-regulation; positive, up-regulation.

Abbreviations: Of the 38 genes evaluated for expression levels, 15 revealed dysregulations in at least one tissue from the patient. This group of genes contained 38 genes in total, for which the fifteen shown in the table were dysregulated in at least one of the patient’s tissues.