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. Author manuscript; available in PMC: 2016 Apr 18.
Published in final edited form as: Semin Neurol. 2014 Sep 5;34(3):266–279. doi: 10.1055/s-0034-1386765

Table 6.

Genetic causes of movement disorders, familial hemiplegic migraine, alternating hemiplegia of childhood, and overlap with epilepsy

Gene Movement disorder Epilepsy Familial hemiplegic migraine Cognitive features
PRRT2

  • Paroxysmal kinesiogenic dyskinesia (onset childhood or adolescence)

  • Paroxysmal non-kinesiogenic dyskinesia or paroxysmal exercise-induced dyskinesia (less common)

  • Paroxysmal torticollis (rare)

  • Episodic ataxia (rarely)

  • Benign familial infantile seizures (BFIS)

  • Infantile convulsions with choreoathetosis syndrome (ICCA)

  • Febrile seizures and childhood absence epilepsy (rare reports)

  • Rare reports

  • Typically normal

  • Intellectual disability (rare)
SLC2A1

  • Paroxysmal kinesiogenic dyskinesia (most common)

  • Dystonia

  • Ataxia

  • Chorea

  • Spasticity

  • Infantile seizures (variety of seizure types)

  • Early onset childhood absence epilepsy

  • Other genetic generalized epilepsies (less common)

  • No

  • Intellectual disability (common)

  • Attention deficits (common)
STXBP1

  • Dyskinesias (common)

  • Tremors (increase with voluntary movements)

  • Non-epileptic myoclonus

  • Choreiform movements

  • Axial contractions resembling spasms

  • Stereotypies

  • Rigidity

  • Spasticity

  • Ohtahara syndrome

  • Early myoclonic epilepsy

  • Other early onset epileptic encephalopathy

  • No

  • Severe intellectual disability and developmental delay
FOXG1

  • Dyskinesias (mixed athetosis, chorea, dystonia)

  • Stereotypies

  • Yes, common with onset age 3 months – 14 years *Duplications only associated with infantile spasms.

  • No

  • Global developmental delay/Intellectual disability
CACNA1A
(α1-subunit of
a voltage-
dependent P/Q
Ca2+ channel)

  • Episodic ataxia type 2

  • Spinocerebellar ataxia

  • Absence seizures (rare with FHM)

  • Yes, common

  • Not described
SCN1A
(αl-subunit
of a neuronal
voltage-gated
Na channel)

  • Not described

  • Dravet syndrome, GEFS+

  • Febrile seizures

  • Focal seizures

  • Yes, uncommon

  • Variable
ATP1A2
(α2-subunit
of a Na/K
pump)

  • Atypical Alternating hemiplegia of childhood, atypical

  • Yes – febrile seizures, BFIS, focal seizures and GTCs including status epilepticus

  • Yes, common

  • Also basilar and common migraine

  • Intellectual disability in some
ATP1A3
(α2-subunit
of a Na/K
pump)

  • Alternating hemiplegia of childhood

  • Yes, including status epilepticus

  • No

  • Developmental delay, variable severity