NPRL3 Gene Duplication/Mutation

Familial NPRL3 gene (C16orf35 ) mutations. Son diagnosed w/ #Epilepsy, #ASD, #ADHD & others. Proud Campbell’s Crusaders. aka @goggles_pi007 #EpilepsyAwareness

[Brain Ablaze @BrainAblaze]

An important message for the 3-5% of people with Epilepsy who are photosensitive. 👇

[NPRL3 Gene Duplication/Mutation @NPRL3_Gene]

@Comptinator We are on a similar path with our son and wish you all the best in your journey for 2024.

[Epilepsia Open @EpilepsiaOpen]

Organization of the epileptogenic zone and signal analysis at #seizure onset in patients with drug-resistant #epilepsy due to focal cortical dysplasia with #mTOR pathway gene mutations – an #SEEG study
https://t.co/RUdZORIdtU

#epilepsysurgery @IlaeWeb @WileyNeuro #ILAE

[Felix Chan @Dr_FelixChan]

@EpilepsyInst Please help distribute widely. We are keen to understand the interaction between metabolism, mTOR, and inflammation. This will have direct relevance to #epilepsy and #tsc @EpilepsyInst @UKTSA @tscalliance @Aston_IHN @AstonHLS

Would love to connect with interested applicants!

[J @epilepsytime]

Never underestimate the #epilepsywarrior ! Continue to spread awareness for #epilepsy and other #invisibleillness ! #epilepsyawareness #EpilepsyAwarenessMonth #epilepsywarriors #epilepsia #epileptic

[Brain Ablaze @BrainAblaze]

Would you, friends, or family know what to do if someone had a seizure? #12DaysOfAwareness #EpilepsyAwareness

https://t.co/AzLMwHCo1x

[NPRL3 Gene Duplication/Mutation @NPRL3_Gene]

@epilepsysociety Merriest of Christmas’ to Angus and his support network, and a continued seizure free holiday season and beyond!

[NPRL3 Gene Duplication/Mutation @NPRL3_Gene]

Some of the scariest moments we have experienced w/ our son and early in our journey we didn’t even know about it…

[Brain Ablaze @BrainAblaze]

Status epilepticus (SE) is a life-threatening medical emergency that requires immediate treatment. -- Do you know someone who has had SE? #12DaysOfAwareness #EpilepsyAwareness

[Epilepsy Society @epilepsysociety]

Would you know what to do if you saw someone having a seizure?

Always remember:
Stay CALM
CUSHION their head
CALL for help

Our aim is to make sure everyone knows how to support someone with #epilepsy 💜

For more information: https://t.co/107VmCCQuZ

[Brain Ablaze @BrainAblaze]

Have your doctors informed you of the risks of SUDEP? #12DaysOfAwareness #EpilepsyAwareness

[Brain Ablaze @BrainAblaze]

#Epilepsy is not a solved problem. What treatments have you tried in addition to anti-seizure meds?#12DaysOfAwareness #EpilepsyAwareness

[Brain Ablaze @BrainAblaze]

#Epilepsy is a neurological condition but #MentalHealth and #mood disorders are common in the epilepsy community. -- Do you (or someone you love) struggle with #depression? #12DaysOfAwareness #EpilepsyAwareness

[Brain Ablaze @BrainAblaze]

Status epilepticus (SE) is a life-threatening medical emergency that requires immediate treatment. -- Do you know someone who has had SE? #12DaysOfAwareness #EpilepsyAwareness

[Epilepsy Society @epilepsysociety]

Every Christmas, for the last 13 years, 17 year old Angus has had epileptic seizures. However this Christmas, thanks to life-changing laser brain surgery just 11 weeks ago, he is hoping to have his first seizure free Christmas.

Read the full story here: https://t.co/yXEu5GuI3a

[NPRL3 Gene Duplication/Mutation @NPRL3_Gene]

@epilepsysociety Merry Christmas Angus and hope your Christmas will be seizure free.

[NPRL3 Gene Duplication/Mutation @NPRL3_Gene]

While our son continues to struggle with new medications and seizure control, stories like this give some hope that surgical solutions are available that are helping those living with Epilepsy in Canada. #Hope #EpilepsyAwareness
https://t.co/qxZG9BPkS4

[NPRL3 Gene Duplication/Mutation @NPRL3_Gene]

known and the expletives were flying.
This year has been tough and while we know those in the Epilepsy community get it, we need to share so that others understand and are aware of life living with this disease. #EpilepsyAwareness

[NPRL3 Gene Duplication/Mutation @NPRL3_Gene]

While we can only imagine how difficult the daily mental struggles must be for those with Epilepsy, feeling defeated and burnt out is something caregivers and families share. Spending endless hours in appointments, hospital visits, worrying about... #Epilepsy

[NPRL3 Gene Duplication/Mutation @NPRL3_Gene]

fighting for him.
Last night was one of those nights when you are at the hospital because something you have never seen occurs and needed to take them to Emerg; you feel overwhelmed with it all. He didn't want to be there and in his post-ictal state, he made it ... #OurLife