Epilepsy and genetics

[drinkingwineoutofamug]

Long story short. Daughter been on an acute neuro unit for a week.
Has had video telemetry. She's been epileptic since 3 which is uncontrollable. Neurologist this week said it's frontal lobe medication resistant epilepsy.
They are going to do another barrage of test : functional mri scan and a pet scan. She has been seen by neuro psychologists who think it's epilepsy not a mental health issue. Speech and language and memory test.
I'm epileptic and so is her younger sister, ours is controlled well. They have done a genetics test on my daughter. They mentioned ( excuse spelling) cortical dysphasia.
Does anyone know anything about this?
They are going down the brain surgery route

Do you mean cortical dysplasia?

DD has cortical dysplasia in the right frontal lobe.

Dysphasia refers to a loss of speech or language - I cannot remember exactly, as it’s an old fashioned term. They might use it for stroke patients; but not children.

Cortical dysplasia is a congenital abnormality of the brain. I suspect they would have to do more tests to establish the exact nature of it. It could be cortical dysplasia in a frontal lobe, if that is where the seizures are coming from?

We asked the consultant what it meant. He put it to us simply, the brain develops like an onion in reverse - the outer layer forms first, the cells migrate down to form an inner layer, and the process repeats itself. However in some babies, the migration went wrong and brain cells end up in the wrong places.

Apparently some people are walking around, unaware they have cortical dysplasia; but those where it’s apparent, because they have epilepsy, it can be difficult to control or drug resistant.

They would look at brain surgery, where it’s a case of removing the abnormal part cures the epilepsy. We were told that as DD has generalised seizures, even if they removed the right frontal lobe, it wouldn’t cure the epilepsy; so they cannot do major brain surgery unless they think it will cure the epilepsy. DD might have a subtle abnormality in the right temporal lobe too.

In her case, the abnormality caused problems with executive functioning, language disorder, dyslexia, dyspraxia (basically an information processing disorder), memory problems, and as she has got older emotional regulation.

Thank you for your reply. Yes that's what I meant .
The plan is for loads of different tests and an op to insert - how consultant describes it- pins into her brain to measure the electrical impulses to pin point the actual area.
They said it effects speech, mobility and behaviours.
There's probably lots more but very difficult have the convo on FaceTime .
They are interested in the genetical link as epilepsy runs down the female line of the family.
She doesn't see the consultant again until she's had the mri . But epilepsy nurse specialist in 3 months.
She was diagnosed epileptic aged 3 and has been uncontrollable since.
Her behaviour are awful, violent tendencies which led to 2 stints in prison. Addictive personality. Finds it had to express herself verbally. Memory problems. Very clumsy.
We were very worried about the paralysis which comes on without seizures and leaves her unable to move her right side completely.
Been epileptic myself since the age of 6 but medicine has come so far since then that my knowledge is very out of date

Yes, EEGs through the skull are not precise enough - that’s why they stick the electrodes directly onto the brain to get a better picture - which they will need if they are considering brain surgery. They need to know exactly which parts to cut out.

DD is part of the 100,000 Genome Project, which looks at which genes might cause these problems. They took my DNA too, although there is no epilepsy in either of our families. We were told it was probably a spontaneous mutation in DD’s case.

Does your DD have an epileptic encephalopathy? The seizures themselves and/or the drugs can cause behaviour problems. DD wouldn’t say boo to a goose until she was about 17; now she has challenging behaviour - mainly verbal, but she can attack us.

That I can't say. She's been on various medications, carbamazepine, lamotrigine, sodium valproate, phenytoin, gabapentin, now on levetiracetam, eslicarbazepine, clobazam and lorazepam and venlafaxine.
Last 2 for her mh which they now don't think is bpd , but a manifestation of her epilepsy.
Think we are at the beginning of a long journey.
Her behaviours started when she was 3. I put it down to the phenytoin at the time as that can cause behavioural problems in children.
She can be vile.
Thank you for all the info . Embarrassingly I'm a newly qualified nurse 😬

Both leveticeteram and clobazam can cause aggression - “Keppra rage”is well known! We couldn’t cope with DD’s aggression on Keppra! We begged for her to be taken off it after 2 months.

I am no doctor, but I find it odd to give 2 drugs, known to cause aggression and then lorazepam, a tranquilliser; unless they did wonders for seizure control!

Has anyone talked to you about toxicity? Too many drugs can make things worse, not better? DD was on 4 drugs plus midazolam, and we called 999 to her every week for 10 years! New consultant talked about toxicity - reduced her to 3 drugs plus 10 mg clobazam when she got to 5 seizures a day. We have not had to call 999 for status epilepticus for 3.5 years!

My DD is at the interface between neurology and psychiatry, and she is under a consultant neuropsychiatrist. She is very sensitive to the psychiatric adverse effects of the AEDs, and it’s those side effects which cause us to try different AEDs, not because we think they will improve seizure control. For instance, ethosuximide caused her paranoia. Lamotrigine made her alternate between being hyper and depressed. Even if DD had symptoms of BPD, we’d assume it was the frontal lobe abnormality, the seizures or the drugs rather than MH.

Thank you again. I hoping now she's under a new neuro team things will
Start to improve. Not saying her old team weren't any good.

Whilst in prison meds weren't given at right time. So that didn't help.
Then they said it wasn't epilepsy but nead. So they went down that route for a bit.
Then returned to the epilepsy route.
She has up to 10 seizures a day plus incontinence . Can't work so is back on uc and pip with her gf as main carer.

This is the first time in 19 years that I feel she is getting somewhere.
She doesn't live with me anymore so it's difficult actually getting her to communicate with me some days as she can blow hot and cold very quickly and I don't know what I've done wrong.

I suppose it's a waiting game

Probably nothing!

Unfortunately, DD's sister developed BPD from the trauma of watching the seizures, drop attacks, 999 calls, etc. We know what its like to live on an emotional rollercoaster, due to black and white thinking, splitting, etc!