C8393T-F1

**Figure 1\. Pedigree diagram for family C8393T\-F1\.**

![](/media/202606/20260630140621129422.png)

# Pedigree Information

| **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 | Italy | Valproate\-associated mental regression and brain pseudoatrophy; epilepsy | 2 | 1 | 2006 | [17101920](https://pubmed.ncbi.nlm.nih.gov/17101920/) |  |

The **m.8393C\>T** variant in MT\-ATP8 was reported in family C8393T\-F1 from Italy with valproate\-associated mental regression and brain pseudoatrophy; epilepsy. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was valproate\-associated cognitive regression, epilepsy, reversible brain pseudoatrophy, childhood generalized tonic\-clonic seizures.

# 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 |  |

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