Centralopathic Epilepsy

What is Centralopathic Epilepsy?

Centralopathic Epilepsy is a rare disease. It is also known as BECTS Benign Epilepsy Of Childhood With Centrotemporal Spikes; Bects Benign focal epilepsy of childhood Benign Rolandic Epilepsy Centrotemporal Epilepsy; Ect Epilepsy - benign Rolandic Temporal-central Focal Epilepsy.

The age of onset is between 3 and 13 years with most developing the condition around the age of 9 years. Many of those who are affected have paraesthesia involving the tongue or mouth and even hemifacial convulsions, with spread towards the bulbar muscles (referred to by some (de Saint-Martin et al., (1999) as facial myoclonia). Consciousness is not usually lost. The EEG features show interictal centro-temporal spikes, bilaterally or unilaterally. In 30% of cases the EEG abnormalities might only be seen in sleep. There might, in addition, be diffuse spike and wave activity. Two children with this condition went into remission but later developed 'benign photosensitive occipital epilepsy' (Guerrini et al., 1997). Two other children (Ong and Wyllie, 2000), developed intractable seizures. Note that this is the commonest pattern in fragile X syndrome (Berry-Kravis, 2002).
Recurrence risks are fairly high and are quoted as 34% for the EEG abnormality and 15% for the seizure disorder (quoted from Blandfort et al., 1987). In a study by Doose et al., (1997), 11% of siblings aged 2-11 years, had focal sharp waves. It is also interesting to note (Kajitani et al., 1992), that 18% of cases in their series had a family history of febrile convulsions versus 8% in their control group, and 48% had a family history of febrile convulsions versus 21% of controls. 6 of 65 patients reported by Verrotti et al., (2002) had an affected first degree relative, two of whom had Rolandic epilepsy. In a Chinese study (Ma and Chan, 2003), 14% had a past history of febrile convulsions, 16% had a family history of a convulsive disorder of which 6% had a family history of febrile convulsions and 10% had a family history of idiopathic generalised epilepsy. In the twin study reported by Vadlamudi et al., (2004) there were 6MZ and 2 DZ twins. All were discordant. Vadlamudi et al., (2006) analyzed 18 twin pairs (10 monozygotic and 8 dizygotic) one in each pair having classic BRE. Four twins had non-classic BRE, but there was no concordance for classic BRE. In the study by Vears et al., (2012), nearly 10% had an affected first degree relative (not all had BECTS), and 3% affected second degree relatives.
A patient reported by Vaughn et al., (1996), had EEG features of benign Rolandic epilepsy and had a 1q deletion and another has had a 7q11.2 deletion (Burke et al., 1997). A more formal linkage study has shown evidence for a gene on 15q14 (Neubauer et al., 1998). Note that this is the same locus as for "myoclonic epilepsy - juvenile". Another locus at 10q in those with temporal lobe epilepsy and auditory auras was reported by Kobayashi et al., (2003) and others - see under 'epilepsy - complex partial seizures'. Two families with a proband having CSWS (continuous spike and wave during sleep) were reported by De Tiege et al., (2006). In both, a parent had Rolandic epilepsy suggesting an association between the two. LG11 mutations were found in 2 patients with partial seizures (both had auditory prodromal symptoms).
Mutations in GRIN2A have also been found (Lemke et al., 2013). Mutations in KCNQ3 can also cause this phenotype (Fusco et al., 2015)

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* This information is courtesy of the L M D.

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What gene changes cause Centralopathic Epilepsy?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 117100 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
SRPX2 - Xq22.1
GRIN2A - 16p13.2
GABRG2 - 5q34

What are the main symptoms of Centralopathic Epilepsy?

The typical symptoms of the syndrome are:
Bilateral tonic-clonic seizure with focal onset, Sporadic, EEG with centrotemporal focal spike waves

How does someone get tested for Centralopathic Epilepsy?

The initial testing for Centralopathic Epilepsy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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