C8393T

# **General Information**

| **Position** | **8393** | **Variant** | **m.8393C\>T** | **Locus** | **MT\-ATP8** | **Amino\-AcidChange** | **P10S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Benign | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.8393C\>T** variant in MT\-ATP8 has been reported in 1 pedigree. To date, 4 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included childhood generalized tonic\-clonic seizures, valproate\-associated cognitive regression, epilepsy, and reversible brain pseudoatrophy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8393 | m.8393C\>T | [C8393T\-F1](https://mitofam.com/doc/1839/) | Italy | Valproate\-associated mental regression and brain pseudoatrophy; epilepsy | 2 | 1 | 2006 | [17101920](https://pubmed.ncbi.nlm.nih.gov/17101920/) |  |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8393 | m.8393C\>T | C8393T\-F1 | C8393T\-F1\-III1 | Fam | M | Y | Y | A | 10 | \+ | / | / | / | Valproate\-associated cognitive regression; epilepsy; reversible brain pseudoatrophy |  |
| 2 | 8393 | m.8393C\>T | C8393T\-F1 | C8393T\-F1\-II1 | Fam | F | N | N | A | 42 | \+ | / | / | / | Healthy |  |
| 3 | 8393 | m.8393C\>T | C8393T\-F1 | C8393T\-F1\-I2 | Uninf | F | N | N | A | 67 | \+ | / | / | / | Healthy |  |
| 4 | 8393 | m.8393C\>T | C8393T\-F1 | C8393T\-F1\-II2 | Fam | M | N | Y | A | 36 | \+ | / | / | / | Childhood generalized tonic\-clonic seizures |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).