Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures.
| Synonym |
|---|
| Schizencephaly |
| Schizencephalic Cyst |
| Schizencephalic Cleft |
| Excerpt | Reference |
|---|---|
| "Schizencephaly is an uncommon malformation of cortical development." | ( Coppola, G; Delli Pizzi, A; Loiacono, G; Rossi, A; Tartaro, A; Verrotti, A, 2015) |
| "Schizencephaly is a rare congenital central nervous system malformation characterized by linear, thickened clefts of the cerebral mantle." | ( Fujii, Y; Hasegawa, H; Matsumoto, N; Miyatake, S; Natsumeda, M; Ohashi, T; Oishi, M; Okamoto, K; Watanabe, J, 2019) |
| "Schizencephaly is a rare central nervous system (CNS) malformation secondary to neuronal migration defects." | ( Ahmed, G; Ahmed, H; Alkareem, M, 2020) |
| "Schizencephaly is a rare congenital malformation that causes motor impairment." | ( Kim, DS; Kim, GW; Ko, MH; Park, SH; Seo, JH; Won, YH; Yoon, JY, 2021) |
| Timeframe | Studies, This Condition (%) | All Conditions % |
|---|---|---|
| pre-1990 | 2 (28.57) | 23.3326 |
| 1990's | 0 (0.00) | 12.5806 |
| 2000's | 0 (0.00) | 18.1394 |
| 2010's | 2 (28.57) | 28.8240 |
| 2020's | 3 (42.86) | 9.53 |
| Drug | Indicated | Relationship Strength | Studies | Trials |
|---|---|---|---|---|
| dantrolene | 0 | low | 1 | 0 |
| pentylenetetrazole | 0 | low | 1 | 0 |
| triazoles | 0 | low | 1 | 0 |
| rufinamide | 0 | low | 1 | 0 |
| inositol 3-phosphate | 0 | low | 3 | 0 |
| Protein | Potency Measurements | Inhibition Measurements | Activation Measurements | Drugs |
|---|---|---|---|---|
| Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE | 2 | 0 | 0 | 2 |
| thioredoxin reductase | 2 | 0 | 0 | 2 |
| ATAD5 protein, partial | 1 | 0 | 0 | 1 |
| GLS protein | 1 | 0 | 0 | 1 |
| Microtubule-associated protein tau | 1 | 0 | 0 | 1 |
| aldehyde dehydrogenase 1 family, member A1 | 1 | 0 | 0 | 1 |
| regulator of G-protein signaling 4 | 1 | 0 | 0 | 1 |
| euchromatic histone-lysine N-methyltransferase 2 | 1 | 0 | 0 | 1 |
| Bloom syndrome protein isoform 1 | 1 | 0 | 0 | 1 |
| chromobox protein homolog 1 | 2 | 0 | 0 | 2 |
| DNA polymerase kappa isoform 1 | 1 | 0 | 0 | 1 |
| histone acetyltransferase KAT2A isoform 1 | 1 | 0 | 0 | 1 |
| Bile salt export pump | 0 | 1 | 0 | 1 |
| Alpha-synuclein | 1 | 0 | 0 | 1 |
| ATP-dependent phosphofructokinase | 2 | 0 | 0 | 2 |
| Smad3 | 1 | 0 | 0 | 1 |
| Parkin | 1 | 0 | 0 | 1 |
| arylsulfatase A | 1 | 0 | 0 | 1 |
| Carbonic anhydrase 1 | 0 | 1 | 0 | 1 |
| Carbonic anhydrase 2 | 0 | 1 | 0 | 1 |
| Carbonic anhydrase 5A, mitochondrial | 0 | 1 | 0 | 1 |
| TAR DNA-binding protein 43 | 1 | 0 | 0 | 1 |
| [prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023] | ||||