Archive for epilepsy
A path forward for genetic testing in unexplained epilepsy
The number of genes implicated in epilepsy has grown rapidly in the past decade. This raises questions about what tests to offer to people with unexplained epilepsy and whether those tests would yield actionable information. Now, practice guidelines developed by genetic counselors at Boston Children’s Hospital offer a way forward. In the first systematic evidence ... Read More
‘Mom, my brain feels better.’ One mother’s story of her daughter’s fight with epilepsy
Liliane has a lot to be grateful for this holiday season. Until just this year, her 16-year-old daughter Emily, who has epilepsy, suffered relentless seizures that left her temporarily unable to speak or stand. The seizures began when Emily was 4, and living her life around them was all she knew. But today, Emily is ... Read More
After retinoblastoma, Finn ‘keeps on showing us what he can do’
Six-year-old Finn Carlson “isn’t afraid of anything,” says his mother, Shannon. Whether he’s playing with firetrucks, chasing after his twin, Mack, or riding the tractor on his grandparents’ dairy farm, he’s always up for an adventure. His fearless, free-spirited attitude is even more impressive considering the challenges he’s faced. Born at just 24 weeks, Finn ... Read More
New insight into dietary approaches for epilepsy
Fasting has been believed since ancient times to curb seizures in epilepsy, and small patient studies in the early 1900s have revived the idea. But the reasons have remained mysterious. New research from Boston Children’s helps explain how fasting affects the brain at the molecular level. The findings could lead the way to new approaches ... Read More
Chasing Rett syndrome biomarkers: Could overnight EEG studies improve care?
In Rett syndrome, a genetic condition affecting girls almost exclusively, mutations in the MECP2 gene cause a regression of language and motor skills starting at 12 to 18 months of age. Children then usually stabilize, but how Rett will ultimately affect them is hard to predict. Some girls develop epilepsy; others have no seizures at ... Read More
Seeds of hope for Annie: one family’s story of epilepsy care
Ten-year-old Annie Dinan experienced her first noticeable seizure just before her fourth birthday while riding in the car with her family. “I had never seen a seizure in my entire life,” her mom, Lindsay, says of witnessing Annie lose then quickly regain consciousness. “But somehow, I knew exactly what it was.” Refusing to settle Following ... Read More
Sudden, unexplained child deaths often have a genetic cause
When a baby or toddler dies without warning, parents often blame themselves. A study at Boston Children’s may provide some insight into sudden, unexplained child deaths and perhaps a measure of closure. It suggests that at least 10 percent of children who die suddenly have an undiagnosed genetic condition that caused or contributed to their ... Read More
Diving deep on epilepsy genetics
When child neurologist Annapurna Poduri, MD, MPH finished her clinical epilepsy fellowship at Boston Children’s Hospital in 2004, she was struck to find that the genetic understanding of epilepsy had changed little in the decade since she started medical school. Many questions were unanswered — and some weren’t yet being asked. Existing treatments were still ... Read More
A promising new antiseizure drug tailored to newborns
Neonatal seizures can lead to serious consequences, including significant cognitive and motor disabilities, lifelong epilepsy, and death. They are often highly resistant to treatment, in part because seizures in newborns are fundamentally different from seizures in older children and adults. Yet they are treated in much the same way as older patients, with little change over the decades. Better treatment is ... Read More
I tried the keto diet to help my epilepsy and it changed my life
My name is Dennis. I’m 15 years old and live in East Greenwich, Rhode Island. Two years ago, I started the keto diet to help my epilepsy and it changed my life. Here’s my story… I was 7 when I was diagnosed with epilepsy. I was too young to know what that really meant or ... Read More