BRAT1-related disorders are genetic conditions caused by genetic changes (variants) in the BRAT1 gene. Conditions that have been associated with the BRAT1 gene include:

• Lethal neonatal spasticity-epileptic encephalopathy syndrome – severe condition characterised by intractable epilepsy (seizures that do not respond well to anti-seizure medications) and rigidity of limbs that present during the neonatal period (first month of life). Babies often have microcephaly (smaller than average head size) and do not develop motor skills. The condition often leads to early death.
• Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) – a less severe condition characterised by global developmental delay and cerebellar atrophy (degeneration of the cerebellum, the area of the brain that controls coordination and balance). Some individuals may have seizures.

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.  

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

There is no specific ORPHAcode for BRAT1-related disorders as a whole, or for Neurodevelopmental disorder with cerebellar atrophy and with or without seizures; NEDCAS. 

ORPHA:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome 

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact. 

Please speak to your medical team to learn more about the symptoms of this condition. 

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

BRAT1-related disorders are genetic conditions caused by disease-causing genetic changes (variants) in the BRAT1 gene on chromosome 7. 

All individuals have two copies (alleles) of the BRAT1 gene — one on each chromosome that is inherited from each parent. BRAT1-related disorders are autosomal recessive conditions, which means both copies of the BRAT1 gene must have the disease-causing genetic variants. 

Individuals with the genetic variant in only one copy are unaffected but will be a carrier and may pass on that variant to their children. If both parents are carriers (each have a copy of the disease-causing variant), there is a 25% chance the child will inherit both disease-causing variants and have a BRAT1-related disorder. More information on autosomal recessive inheritance pattern can be found at Centre for Genetics Education: Autosomal recessive inheritance. 

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at: 

• Information on Genetic Services 

• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed 

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials. 

Please speak to your medical team to learn more about the available diagnostic pathways for this condition. 

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities. For many rare diseases, treatment options may be limited. Participation in a clinical trial may provide access to new or emerging therapies.

Healthcare professionals involved in the care of individuals with BRAT1-related disorders may include general practitioners (GP), paediatricians, neurologists, and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here. 

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

This may not be applicable to all rare diseases but for many, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

If you know of any relevant care guidelines, please let us know via the Contribute page. 

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page. 

We are not aware of any rare disease organisations specifically for BRAT1-related disorders in Australia. If you are aware of any relevant Australian organisations, please let us know via the Contribute page.

Genetics Alliance Australia (GAA) may be able to provide some support for families and individuals affected by an undiagnosed or rare genetic condition for which there is no disease specific organisation in Australia.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

BRAT1-related disorders vary between individuals, and each person’s experience is unique.  

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on BRAT1-related disorders can be found at: 

• Genetic and Rare Diseases (GARD) Information Center: Neonatal-onset encephalopathy with rigidity and seizures 

Online Mendelian Inheritance in Man, OMIM^®: #614498 Rigidity and multifocal seizure syndrome, lethal neonatal; RMFSL 

Online Mendelian Inheritance in Man, OMIM^®: #618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures; NEDCAS 

Orphanet: Lethal neonatal spasticity-epileptic encephalopathy syndrome 

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. 

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.