C6489A-F1

**Figure 1\. Pedigree diagram for family C6489A\-F1\.**

![](/media/202606/20260626162622061343.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6489 | m.6489C\>A | C6489A\-F1 | German | Epilepsia partialis continua | 2 | 0 | 2002 | [12140182](https://pubmed.ncbi.nlm.nih.gov/12140182/) |  |

The **m.6489C\>A** variant in MT\-CO1 was reported in family C6489A\-F1 from German with epilepsia partialis continua. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was epilepsia partialis continua, developmental delay, seizures, valproate\-induced hepatic failure, respiratory failure.

# 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 | 6489 | m.6489C\>A | C6489A\-F1 | C6489A\-F1\-II1 | Fam | F | Y | Y | D | 17 | 28% | 86% | / | / | Epilepsia partialis continua; developmental delay; seizures; valproate\-induced hepatic failure; respiratory failure |  |
| 2 | 6489 | m.6489C\>A | C6489A\-F1 | C6489A\-F1\-I1 | Uninf | F | N | N | A | ND | 89% | / | / | / | Healthy |  |
| 3 | 6489 | m.6489C\>A | C6489A\-F1 | C6489A\-F1\-II2 | Fam | M | N | N | A | ND | 90% | / | / | / | Healthy |  |

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