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Epilepsy and LMBRD2: understanding what we know, and not facing it alone

  • Jul 13
  • 7 min read

Updated: Jul 13

A topic that's been mentioned in passing, but never explained on its own


Read back through this blog's own articles, and epilepsy keeps showing up at the edges. The piece on motor challenges and spasticity mentions that the pediatric neurologist "manages epilepsy when it is present." Another article notes that a given treatment "has effects on the seizure threshold." Yet epilepsy itself has never had its own article here — even though, for some families in our community, it's part of daily life, and for many parents it remains one of the most concrete fears: the seizure that arrives without warning, at home, at school, in the car.


This article does not claim to answer everything — the science on LMBRD2 is still in its earliest stages. What it offers: a clear line between what is specifically documented for LMBRD2 and what belongs to general medical knowledge about epilepsy in children, the life-saving steps to know, and guidance on when to act. We are not doctors and we prescribe nothing. Only your child's medical team can make a diagnosis, choose a treatment, and adapt care to their situation.


Epilepsy & LMBRD2

What the science actually says about LMBRD2 and epilepsy

To date, a single peer-reviewed publication documents the LMBRD2 mutation: Malhotra, Ziegler et al., Journal of Medical Genetics, 2021. It describes 10 unrelated individuals, aged 21 months to 25 years, carrying de novo variants in the LMBRD2 gene.


Based on the clinical data associated with this publication (referenced in the OMIM database, entry #619694), epilepsy was among the features observed in roughly half of these first 10 patients described — alongside motor delay (present in nearly all), microcephaly (in about 7 of 10), and a thinned corpus callosum on brain imaging (in about 7 of 10).


What this publication does not specify — and we would rather say so plainly than invent it — is the type(s) of seizures, their age of onset, their frequency, or how they evolve over time. With only 10 individuals described worldwide, no typical profile can be established. What your own child experiences is, for now, a matter of lived family experience more than published science.



Understanding what a seizure actually is

An epileptic seizure is abnormal, excessive electrical activity in the brain. According to the classification used by the International League Against Epilepsy (ILAE), seizures fall broadly into:


Focal seizures: these begin in one specific area of the brain. The child may remain aware (unusual localized movements or sensations) or have impaired awareness (blank stare, automatic movements, confusion).

Generalized seizures, which involve both hemispheres from the start:

  • tonic-clonic seizures (stiffening followed by rhythmic jerking, loss of consciousness);

  • absence seizures (brief blank staring, a few seconds, common in children);

  • myoclonic seizures (brief, sudden muscle jerks);

  • atonic seizures (sudden loss of muscle tone, causing a fall);

  • tonic seizures (muscle stiffening without jerking).


Some epilepsy syndromes combine several seizure types (for example, Lennox-Gastaut syndrome). Only an EEG (electroencephalogram), interpreted by a pediatric neurologist, can determine the seizure type and guide treatment — no observation, however precise, replaces this test.



Life-saving steps: what to do during a seizure

These recommendations follow the protocols published by leading epilepsy organizations (Epilepsy Foundation, CDC, French League Against Epilepsy). They apply to most convulsive seizures; your child's neurologist may give you additional instructions specific to your child — always follow those first.

  • Stay calm and time it. Note the start time of the seizure. This is the single most useful piece of information for deciding when to seek emergency help.

  • Make the space safe. Clear away hard or sharp objects. Slide something soft under the head (a folded piece of clothing, a cushion).

  • Never hold the person down. Restraining a child during a seizure does not stop it and can cause injury.

  • Never put anything in the mouth. Not fingers, not an object, not water. "Swallowing the tongue" is a myth — the real risk is injury or choking.

  • Loosen anything that could restrict breathing (collar, scarf).

  • As soon as possible, turn the child onto their side, mouth toward the ground (recovery position), to keep the airway clear — especially once the jerking has stopped.

  • Stay with the child afterward. The post-seizure confusion period can last several minutes. Speak softly, reassure them, and don't leave them alone until they have fully regained awareness.



When to call emergency services

This is the question that worries parents most, and the answer rests on well-established emergency medicine criteria:

  • The seizure lasts longer than 5 minutes. Beyond this point, it is called status epilepticus: a medical emergency, since the risk of complications rises with duration.

  • They have another seizure soon after the first one, without regaining consciousness in between.

  • They have trouble breathing or waking up after the seizure — specifically, if they don't start to recover or remain unresponsive for more than 10 to 15 minutes after the convulsions stop.

  • They are injured during the seizure.

  • The seizure happens in water.

  • It's the child's first seizure ever.


If your child already has a personalized emergency protocol prescribed by their neurologist (a rescue medication for prolonged seizures), follow it alongside calling emergency services if the situation calls for it.



The professionals involved and diagnosis

The pediatric neurologist remains the central physician in the journey: they order the EEG, diagnose the seizure type, and choose and adjust treatment.

The EEG (electroencephalogram) records the brain's electrical activity. It can be done as a short outpatient test, or sometimes as an inpatient extended recording (video-EEG) to capture and precisely characterize an event.

Anti-seizure medications cover many different molecules; the choice depends on seizure type, the child's age, tolerance, and any other conditions. This adjustment — dosage, molecule, possible combination of treatments — is entirely the responsibility of your child's medical team. We deliberately give no dosage or drug-name guidance here: these are strictly individual decisions.

For drug-resistant epilepsy (which does not respond sufficiently to medication), some pediatric neurology teams evaluate other approaches documented in the general pediatric epilepsy literature, such as the ketogenic diet (a medically supervised diet) or, more rarely, surgical options. These are relevant only for a subset of children and can only be considered by a specialized center.



School: a documented action plan

Whatever country you live in, most education systems have some formal way to put a written seizure/health protocol in place at school, built together with the school and your child's medical team. It typically covers what to do during a seizure, who is authorized to give emergency medication, and any adjustments to the school day. The name of this document varies by country:

  • France: the Projet d'Accueil Individualisé (PAI), coordinated with the school physician.

  • United States: a Seizure Action Plan, often paired with a 504 Plan or an IEP.

  • United Kingdom: an Individual Healthcare Plan (IHP), coordinated with the school and an epilepsy specialist nurse.

  • Elsewhere: ask your child's school or local health/education authority what the equivalent is called — most countries have one, even under a different name.


It's worth setting up as soon as seizures become part of your child's life: it avoids having to re-explain the situation to every new teacher, and clearly defines who is authorized to act in an emergency.



A simple tool: the seizure log

Many families in our community keep a seizure diary, whether on paper or in an app. There is no required format, but the information most useful to the neurologist typically includes:

  • the date and time of the seizure;

  • its exact duration;

  • what came before it (fever, lack of sleep, a medication change);

  • a description of the movements observed;

  • the child's condition and recovery time afterward.

Even an imperfect log often helps far more than expected in adjusting treatment or identifying a trigger.



A note for parents

Living with the possibility of a seizure changes daily life: the constant underlying vigilance, sleep interrupted by worry, the difficulty of trusting others to watch your child, the fatigue of endlessly re-explaining the situation to family, school, and new healthcare providers. This load is real, even when it's invisible from the outside. It is not a sign that you're overreacting — it's a burden inherent to the situation. Taking care of your own well-being remains a legitimate and necessary part of caring for your child.



What the community knows

Science, so far, has almost no LMBRD2-specific answers about epilepsy: no typical profile, no data on how it evolves, no treatment validated specifically for this mutation. But families are accumulating real experience — which type of seizure affects their child, what has helped, which neurologist truly understood the situation. Today, this knowledge exists nowhere in a centralized way.

If epilepsy is part of your child's daily life, your experience matters, whatever form it takes. Share it with us at contact@lmbrd2.org or on our private channels (Facebook/Discord). What you describe, even informally, helps every newly diagnosed family avoid starting from zero.



Key takeaways

  • Only one scientific publication exists on LMBRD2 (2021, 10 patients); epilepsy is reported in roughly half of the cases described, with no detail on type or evolution.

  • First-aid steps during a seizure are well established and apply regardless of the cause of epilepsy: make the area safe, put nothing in the mouth, don't restrain, turn onto the side once jerking stops.

  • Call emergency services if the seizure lasts more than 5 minutes, if another seizure follows soon after, if breathing or waking up is difficult afterward, if there's an injury or the seizure happens in water, or if it's a first-ever seizure.

  • The pediatric neurologist remains the only point of contact for diagnosis (EEG) and treatment adjustment.

  • Most countries have a formal school action plan for epilepsy — it's worth asking what yours is called.

  • Our community's experience is a valuable resource that the scientific literature does not yet document — and it deserves to be shared.



How to support our work

Every journey like the ones shared here requires tailored support and considerable resources. Our association needs your support to continue helping families affected by this rare mutation, fund research, and create information and support tools. Every donation, however small, makes a difference.

2- Global flexible donation platform: https://gofund.me/9167cfe03


Thank you in advance!



Sources

Malhotra A, Ziegler A, Shu L, et al. "De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features." Journal of Medical Genetics, 2021;58(10):712-716. PMID: 32820033 · OMIM® Entry #619694 (DENBA) · CDC — First Aid for Seizures (cdc.gov/epilepsy/first-aid-for-seizures) · CDC — Types of Seizures (cdc.gov/epilepsy/about/types-of-seizures) · Fisher RS, Cross JH, French JA, et al. "Operational classification of seizure types by the ILAE." Epilepsia. 2017;58(4):522-530 · Cleveland Clinic — Status Epilepticus (my.clevelandclinic.org/health/diseases/24729-status-epilepticus) · Epilepsy Action (UK) — School support, Individual Healthcare Plans (epilepsy.org.uk/living/education-and-epilepsy/school-support) · American Academy of Pediatrics — Supporting Children and Youth with Epilepsy at School (aap.org) · Ligue Française contre l'Épilepsie — Épilepsie et scolarité, le PAI (epilepsie-info.fr).

All sources above were fetched and read in full before being cited.

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