A genetic test helped baby Rowan’s doctors diagnose his epilepsy and led his parents to a community of families just like theirs. Read Rowan’s story here: https://invit.ae/3wym8uj
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Cerebral palsy is a group of conditions that affect movement and is one of the most common causes of motor challenges in children. Genetic testing can help establish a definitive diagnosis and find answers. Our Cerebral Palsy Disorders Panel analyzes 419 genes associated with motor development deficits, including spastic movement disorders, ataxia, and dystonia. To ensure our patients receive meaningful answers, our ordering process is supported by an expert genetic counseling and customer service team, ensuring no question goes unanswered. Learn more: https://bit.ly/3W0eW4P #ThinkBG #BGreat #CerebralPalsy
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🌻 “Sunflower syndrome is a unique photosensitive epilepsy, characterized by heliotropism and stereotyped seizures associated with handwaving". Do you know this syndrome? For more information about Sunflower, do not miss the EpiCARE Genetic Platform: https://lnkd.in/epZRBtWy. There you have available the publication of the study! 🔍 How You Can Help: If you or someone you care for is affected by Sunflower Syndrome, we kindly ask you to complete a brief questionnaire aimed at evaluating the effectiveness of various medications. Your input is invaluable in advancing our understanding and treatment of this highly stereotyped epilepsy syndrome. 📝 Take the Survey: https://lnkd.in/eXi7YxTT #SunflowerSyndrome #EpiCARE #GeneticResearch #Epilepsy #Website #EU4Health #HealthUnion
Collaborative Genetic Research - EpiCARE
https://epi-care.eu
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Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II "Although more than 1700 genetic disorders associated with intellectual disability have been described, 37 recommendations were identified for a relatively small number of conditions, with two-thirds of the identified documents addressing only seven conditions (tuberous sclerosis complex, neurofibromatosis type 1, Rett syndrome, Prader-Willi syndrome, 22q11.2 deletion syndrome, Angelman syndrome, and Dravet syndrome), which are relatively frequent among rare conditions." Individually rare, collectively common #RareDiseases #CNvs Kimberley Kendall https://lnkd.in/eEP7PjCE
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Article | Scientists find a likely cause of many unexplained cases of intellectual disability: A genetic disorder. Read more at this link (https://lnkd.in/gyfvYSwk). #healthnews #geneticdisorder #intellectualdisability #scientists #research #disabilityawareness #medicalresearch
Scientists find a likely cause of many unexplained cases of intellectual disability: A genetic disorder
nbcnews.com
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Today is Purple Day, a day to wear and share all things purple to raise awareness of epilepsy! 💜💜💜 Epilepsy is a condition that causes repeat seizures, and affects over 50 million people worldwide. Did you know that epilepsy can have a genetic cause? Identifying the genetic cause of epilepsy can provide a unifying diagnosis for a person's symptoms, inform their best possible medical management recommendations, and allow them to connect with communities with the same diagnosis. 👉 To learn more about the genetic basis of epilepsy and genetic testing options, connect with a genetic counselor by visiting https://lnkd.in/gFQETeX! 👉 To get involved in raising awareness of epilepsy, visit www.purpleday.org! #PurpleDay #WearPurple #Epilepsy #EpilepsyAwareness
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Professor of Epilepsy Genetics & Head of Dept. of Epilepsy Genetics and Personalized Medicine at the Danish Epilepsy Centre, Filadelfia / University of Southern Denmark I Epilepsy I Genetics I Precision Medicine
Rare disease day is tomorrow 🦓 - a day dedicated to raise awareness for patients, families and carers around the world that are affected by rare diseases ❗ Pathogenic variants in #KCNA2, encoding the voltage-gated potassium channel Kv1.2, have been associated with spectrum of neurological disorders. Affected individuals may present with early-onset epilepsy, developmental delay, intellectual disability, hereditary spastic paraplegia, chronic or episodic ataxia. Want to learn more about #KCNA2-related disorders? Check out this insightful video from the KCNA2 Foundation 👇 #Epilepsy 💜 #Genetics #EpilepsyAwareness #RareDiseaseDay2024 🦓 Nancy Musarra Steffen Syrbe Epilepsy Sparks Anne Forsingdal Højte Hansen Maja Stjerne Hansen Rebekka Staal Dahl https://lnkd.in/dXAeX7FR
KCNA2 Epilepsy I Understanding this Rare Gene Disorder
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FOXG1 syndrome is a neurological and developmental disorder that affects boys and girls. FOXG1 syndrome involves a change or misspelling in the FOXG1 gene. Even though this is a genetic disorder, the change in the gene is new to the patient and not inherited from parents. In other words, a new spelling mistake happened around the time the egg and sperm came together. This is not caused by something the parents did or didn’t do. Symptoms of FOXG1 syndrome usually begin in infancy, often in the second month of life. Irritability occurs first, with repeated seizures (epilepsy) occurring later. These seizures are typically difficult to treat with medications. Children with FOXG1 syndrome may have a special type of epilepsy called spasms. They also have delayed development, intellectual disability, and trouble walking and sitting. Many patients have difficulty seeing, a condition called cortical visual impairment. Patients with FOXG1 syndrome usually have an abnormal MRI scan of the brain. #FOXG1 #genetic #epilepsyawareness #rise4rare #rddc #rarediseasediversity #raiseawareness #zebrastrong
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Incorporation of a detailed fetal anomaly scan into the first-trimester screening can improve the detection rates for Edwards Syndrome (Trisomy 18), and Patau Syndrome (Trisomy 13), the two most common genetic disorders. Latest #Voluson developments can support with the visualization of tiny details and subtle changes to give more confidence to your diagnosis. #RIC6-12 #GEHealthCare #TrisomyAwarenessMonth #YouSetTheLimits
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Today is all about Synaptic ras GTPase-activating protein 1 (SYNGAP1). This gene is integral for cognition and synapse function. But alterations in SYNGAP1 can lead to epilepsy, usually beginning during infancy and early childhood. Eyelid myoclonia, absence seizures, myoclonic-atonic seizures, myoclonic seizures, and photosensitivity are common symptoms. From mild to severe intellectual disability, and Autism Spectrum Disorder (ASD), to low muscle tone, and a myriad of sleep, behaviour, and eating issues, SYNGAP1 gene alterations cast a wide net of challenges. Diagnosis is possible through genetic testing. For further information, please visit www.syngapaustralia.org or contact the National Epilepsy Support Service on 1300 761 487 or [email protected] Face-to-face meetings are by appointment only. Share this Epi-Insight card to help raise awareness of SYNGAP1 and epilepsy. #EpilepsyFoundation #Epilepsy #SYNGAP1 # InternationalSYNGAP1AwarenessDay #EpilepsySupport #EpilepsyAwareness
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https://lnkd.in/dy8A8uqw In 2024, the NAEC updated its guidelines for specialized epilepsy centers for the first time in 20 years. The updated guidance recommends the use of genetic testing and counseling for the first time. The guidance emphasizes that testing should occur early in diagnostic evaluation because genetic diagnosis might lead to more effective management and better outcomes.
Fast Five Quiz: Epilepsy Essentials
reference.medscape.com
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