Child's Illness Fuels Search for Early-life Epilepsy Diagnostics

By David Jacobson

Postdoctoral fellow Ramon Birnbaum, PhD, and his daughter Ruth

When Ramon Birnbaum, PhD, came to UCSF three years ago to do his postdoctoral work on the role of genetic regulation in human disease in the lab of School of Pharmacy faculty member Nadav Ahituv, PhD, epilepsy was barely on his radar.

Once, while serving in the Israeli military, he saw a fellow soldier suffer a seizure. Upon arriving on campus, just out of curiosity, he attended a presentation by Daniel Lowenstein, MD, director of the UCSF Epilepsy Center. That was the sum total of Birnbaum’s experience with this spectrum of seizure disorders, which affect an estimated 50 million people worldwide.

Then, in 2010, his daughter Ruth was born, and everything changed.

The parents of three healthy boys, Birnbaum and his wife, Adva, immediately noticed when three-week-old Ruth exhibited “subtle but unusual repetitive movements.” Following her intuition, Adva took their newborn to the pediatrician, who suspected Ruth was having seizures.

According to Birnbaum, the first neurologist they consulted thought it was probable that Ruth had Ohtahara syndrome, a severe disorder with a grim prognosis. Indeed, despite prescribed medications, Ruth’s seizure rate worsened, he recalls. She suffered several clusters per day, with some involving hundreds of convulsions over the course of an hour.

“It’s hard to imagine and even harder when, as a parent, you can’t do anything to help her,” Birnbaum says. “Her brain was on fire 24/7 with no chance to develop normally.”

But a second opinion by Joseph Sullivan, MD, director of the UCSF Pediatric Epilepsy Center, was more optimistic.

While abnormal electrical activity in Ruth’s brain was similar to that seen in Ohtahara, after viewing a homemade video of her seizures, Sullivan diagnosed her as having infantile spasms, a different type of early onset epilepsy.

For Birnbaum and his advisor, Ahituv, a geneticist in the UCSF Department of Bioengineering and Therapeutic Sciences, the experience fueled a drive to discover a genetic diagnosis for infantile spasms, and potentially for other epilepsies and complex diseases. Then, if an infant like Ruth Birnbaum develops a seizure disorder, physicians would know what it is sooner in order to treat it faster.

Read the full story on the UCSF School of Pharmacy website

Photos by Ramon Birnbaum