Epilepsy: when family history holds the key to diagnosis

Abstract

There may be many causes of epileptic seizures, so thorough clinical history taking and examination to determine the seizure semiology is paramount. In this article, the authors describe a patient with new‐onset seizures whose family history proved pivotal to targeted genetic testing and appropriate antiepileptic drug therapy.

Episodic loss of consciousness: how genetic testing points to diagnosis

“…6,7 Familial cases of Sotos 1 syndrome are rare, for example found in only 13 of 239 NSD1positive cases reported by Tatton-Brown et al, 7 suggesting that family history is unlikely to be helpful in this situation, contrary to clinical experience in some other forms of epilepsy in which family history and additional clinical features observed along with the seizure disorder (eg occipital seizures) have assisted genetic diagnosis. 8 The International League Against Epilepsy (ILAE) 2010 classification of the epilepsies designated some epilepsy syndromes as 'genetic epilepsies'. 9 Since not all patients with Sotos syndrome develop seizures, it may not be deemed appropriate for classification in this group, bearing in mind that on the one hand the use of EEG findings in isolation risks false positive diagnosis of epilepsy, whereas on the other hand the frequency of epileptic seizures may be an underestimate of those with subclinical epileptiform activity on EEG.…”

“…In summary, in addition to careful characterisation of ictal semiology when possible, 1 recognition of characteristic dysmorphic features and subsequent targeted genetic testing may be h e l p f u l i n t h e d i a g n o s i s o f epilepsy syndromes. 3,8 Dr Milburn-McNulty is a Specialist Registrar in Neurology and Dr Larner is a Consultant Neurologist, both at Walton Centre for Neurology and Neurosurgery, Liverpool.…”