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Table 2 Characteristics of seizures, EEG pattern and EP study results

From: The neurology of rhizomelic chondrodysplasia punctata

Patient

Age at epilepsy onset, y

Seizure type

Seizure frequency

Age at EEG examination, y

Background pattern first EEG/development of background pattern

Focal/multifocal abnormal activity

Epileptiform activity

Age at EP examination, y

BAEP

VEP

SSEP

1

2

Myoclonic

Daily

2.0-4.2

M ➔ Mo

Focal

+

3.1 – 4.2

N ➔ N

N ➔ N

-

2

11

Myoclonic; generalized tonic-clonic

Weekly

0.8-11.7

N ➔ S

Focal

+ (≥ 3.8 yrs)

0.8 - 9.1

N ➔ S

N ➔ S

NCR

3

4

1. Fever induced generalized tonic-clonic; 2. (>8.5 yrs) generalized tonic-clonic and atypical absence

1. Sporadic; 2. Weekly

0.8-8.6

N ➔ S

Multifocal

+ (≥ 2.9 yrs)

0.8 - 6.9

N ➔ S

N ➔N

N ➔ M

4

0.3

Tonic; smacking

Daily

0.0-1.3

N ➔ S

Multifocal

+ (≥ 0.5 yrs

0 - 0.3

N ➔ S

N ➔N

-

5

3

Myoclonic; gelastic; atypical absence

Daily

0.9-4.5

M ➔ Mo

Focal ➔ multifocal

+ (≥ 0.9 yrs)

1.3 - 4.5

N ➔ M

N ➔ M

NCR/S

6

2

Myoclonic; status epilepticus

Daily (clustered)

0.2-2.4

N ➔ S

Focal ➔ multifocal

+ (≥ 1.1 yrs) St epilepticus

0.2 - 2.3

N ➔ N

N ➔ N

NCR

7

2

Myoclonic-tonic; gelastic

Daily

0.0-4.0

N ➔ M

 

+ (≥ 2.3 yrs)

0 -1.8

N

N ➔ N

N

8

0.8

Tonic

Fever induced

0.0-2.2

N

  

0

N

M

-

9

1

Generalized tonic-clonic

Single, fever induced

0.7-1.7

N ➔ M

Multifocal

+ (≥1.1 yrs)

0.5 - 1.7

N ➔ N

N ➔N

-

10

5

1. Facial myoclonic; 2. tonic

1. Daily; 2. Monthly

5.6

N

Focal

+

-

-

-

-

11

   

0.3

M

 

+

0.3

N

N

M

12

10

Myoclonic

Daily

26.7

M

Focal

+

-

-

-

-

13

   

5.4-7.3

N ➔ N

Focal

+ (≥ 5.4 yrs)

5.4 - 7.3

N ➔ N

N ➔ N

N ➔ N

14

7

Atypical absences

Weekly

6.5-8.3

M

 

+ (≥ 6.5 yrs)

6.5 - 7.5

N ➔ N

M ➔ N

N ➔ N

15

21

Generalized tonic-clonic

Single

9.3-23.1

M

Focal➔ multifocal

+ (21 yrs)

9.3 - 23.1

N ➔ N

N ➔ M

N

16

20

Atypical absence

Monthly

13.3-29.5

Mo ➔ Mo

Multifocal

+ (≥ 13.3 yrs)

10 - 17

N

N ➔ N

-

  1. N: normal; M: mildly abnormal EEG for age/mildly increased latencies (+2-4 SD), Mo: moderately abnormal EEG background pattern, S: severely abnormal EEG pattern for age/markedly increased latencies (> +4 SD). NCR: no cortical response, y: years.