Known to friends and family as a "cheeky" and "charming" little boy, Callum, from Brynmawr, was diagnosed with Ohtahara syndrome
as a baby after he began having up to 19 seizures a day.
SCN2A -related disorders are inherited in an autosomal dominant manner with incomplete penetrance and variable expressivity, while de novo variants are not uncommon. Pathogenic variants in SCN2A have been associated with a phenotypic spectrum that includes benign neonatal/infantile seizures, Ohtahara syndrome
, epilepsy of infancy with migrating focal seizures, West syndrome, Lennox-Gastaut syndrome, myoclonic-atonic epilepsy, electrical status epilepticus during sleep, and intellectual disability and/or autism without epilepsy. The diagnosis of a SCN2A -related disorder in this patient could explain his epilepsy as well as his autism and developmental delay.
Two-year-old Leo has Ohtahara Syndrome
, a neurological disorder characterised by seizures and severe developmental delay.
Also this week, community action in Llanrug to raise money for toddler Archie Williams who is living with Ohtahara Syndrome
and a taste of 'Cegin Cofi' the new co-op cafe in Caernarfon.
Her precious -born had Ohtahara Syndrome
, a neurological disorder characterised by seizures.
"Leigh was fantastic with all the families and even spoke to my cousin over the phone to wish her a happy birthday and signed a card for her, which she was delighted with!" Three-year-old Callum suffers from Ohtahara syndrome
- a rare epilepsy condition - and was referred to Ty Hafan in 2013.
And the Prime Minister's first child, Ivan, was born with Ohtahara syndrome
, a rare form of cerebral palsy and epilepsy.
which is one of the severe epileptic encephalopathy pictures observed in newborns was defined in 1976 for the first time.
Ivan lived with cerebral palsy and a rare and severe form of epilepsy known as Ohtahara syndrome
PROUD Donna's second cousin Diane Brooks put her forward for our competition SELFLESS Mam of the Year nominee Donna Fay with her son Connor, who has the rare condition Ohtahara syndrome
Connor suffers from a progressive neurological disorder called Ohtahara Syndrome
, a rare form of epilepsy.
Ivan had a rare epilepsy condition accompanied by severe cerebral palsy called Ohtahara Syndrome
. He died after a seizure.