**10. Conclusions**

LSDs are the main cause of the inherited form of PME. However, they are poorly known as a cause of PME and the differential diagnosis might be challenging. An accurate diagnosis is crucial to provide the best therapeutic approach and an appropriate genetic counselling.

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Therefore, in this chapter we have discussed the main clinical and molecular findings in patients with PME affected by LSDs.

It is important to highlight that even if each LDS present with specific sings, some general features should prompt the physician to suspect the presence of a LSD in a patient with PME, such as 1- a familiar history suggestive of a genetic disease, 2- association with other signs of neurological impairment, 3- the presence of visceral involvement.

In the suspect of a LSDs as a cause of PME, specific tests should be performed in specialized laboratories in order to provide an accurate biochemical diagnosis. In addition, the identification of the genes involved in most of these disorders offers the possibility to perform a molecular diagnosis. This type of analysis is quite laborious and time consuming since in most cases the complete sequencing of the affected gene is needed. However, molecular genetic studies are the only reliable tests for the identification of carriers in blood relatives and it is the highly preferred strategy for prenatal diagnosis.

Over the last years a lot of progresses in the understanding of the clinical features and the genetic bases of LSDs have been done. However, very little is known about their pathogenetic mechanisms. In fact, the elucidation of the molecular pathways leading to the neuronal degeneration and the development of therapeutic strategies for these diseases remain the main challenge for the future.

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Therefore, in this chapter we have discussed the main clinical and molecular findings in

It is important to highlight that even if each LDS present with specific sings, some general features should prompt the physician to suspect the presence of a LSD in a patient with PME, such as 1- a familiar history suggestive of a genetic disease, 2- association with other

In the suspect of a LSDs as a cause of PME, specific tests should be performed in specialized laboratories in order to provide an accurate biochemical diagnosis. In addition, the identification of the genes involved in most of these disorders offers the possibility to perform a molecular diagnosis. This type of analysis is quite laborious and time consuming since in most cases the complete sequencing of the affected gene is needed. However, molecular genetic studies are the only reliable tests for the identification of carriers in blood

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**1. Introduction** 

will be considered.

**Abbreviations** 

suggestions for future work.

BF Bifrontal

FL Frontal lobe

AED Antiepileptic drug

EEG Electroencephalogram EI Emotional intelligence FHI Frontal Head Injury

FLE Frontal lobe epilepsy

IQ Intelligence Quotient LT Left temporal lobe

HC Healthy Controls

LF Left frontal lobe LFT Left fronto-temporal LH Left hemisphere

FSIQ Full Scale Intelligence Quotient

IGE Idiopathic generalised epilepsy

MME Mini Mental State Examination

LTLE Left temporal lobe epilepsy

HADS Hospital Anxiety and Depression Scale

society.

**14** 

Jane McCagh

*England* 

*Liverpool Hope University* 

**Social Cognition in Epilepsy** 

There is a paucity of research which has investigated social cognition in epilepsy, this is surprising given the abundance of evidence that exists in relation to the difficulties that people with epilepsy (PWE) have in relation to social functioning (McCagh et al., 2009). The study of social cognition in epilepsy will lead to a greater understanding of the social cognitive deficits of the epileptic condition. This may in turn lead to more effective psychological interventions to enable the smoother functioning of people with epilepsy in

The aim of this chapter is to provide a detailed critical review of research which has investigated socio-cognitive functioning in people with epilepsy to date. Throughout the chapter, the impact of epilepsy related variables in relation to socio-cognitive processing

The final part of the chapter will explore why people with epilepsy may have social cognitive deficits and will go on to summarise limitations in past research. The author will conclude by providing the rationale and aims of their current research in this area and

